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	t_alt_count	t_ref_count	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
CCNL2	81669	broad.mit.edu	37	1	1322766	1322766	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:1322766G>A	uc001afi.2	-	11	1440	c.1408C>T	c.(1408-1410)CGA>TGA	p.R470*	CCNL2_uc010nym.1_RNA|CCNL2_uc001aff.1_Nonsense_Mutation_p.R248*|CCNL2_uc001afg.1_Nonsense_Mutation_p.R248*|CCNL2_uc001afh.2_3'UTR|CCNL2_uc001afj.2_3'UTR|CCNL2_uc001afk.2_3'UTR	NM_030937	NP_112199	Q96S94	CCNL2_HUMAN	cyclin L2 isoform A	470					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)		GACCTGCTTCGAGAACGGGAA	0.552													26	25					0	0	0.001786	0	0
PRDM16	63976	broad.mit.edu	37	1	3331170	3331170	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:3331170G>A	uc001akf.2	+	10	2730	c.2650G>A	c.(2650-2652)GAG>AAG	p.E884K	PRDM16_uc001akc.2_Missense_Mutation_p.E883K|PRDM16_uc001akd.2_Missense_Mutation_p.E883K|PRDM16_uc001ake.2_Missense_Mutation_p.E884K|PRDM16_uc009vlh.2_Missense_Mutation_p.E584K	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	884	Mediates interaction with SKI and regulation of TGF-beta signaling.|Interaction with CTBP1 and CTBP2 (By similarity).				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		AGCCCTGAAGGAGAAGTACCT	0.667			T	EVI1	MDS|AML								5	16					0	0	0.001168	0	0
PRDM16	63976	broad.mit.edu	37	1	3350266	3350266	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:3350266C>T	uc001akf.2	+	17	3802	c.3722C>T	c.(3721-3723)TCC>TTC	p.S1241F	PRDM16_uc001akc.2_Intron|PRDM16_uc001akd.2_Missense_Mutation_p.S1240F|PRDM16_uc001ake.2_Intron|PRDM16_uc009vlh.2_Missense_Mutation_p.S941F	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	1241	Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CTGTCCCTTTCCGAAGACACT	0.443			T	EVI1	MDS|AML								42	52					0	0	0.003610	0	0
ACOT7	11332	broad.mit.edu	37	1	6453328	6453328	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:6453328G>A	uc001amt.2	-	1	499	c.132C>T	c.(130-132)ATC>ATT	p.I44I	ACOT7_uc010nzq.1_5'UTR|ACOT7_uc001amu.2_RNA|ACOT7_uc001amv.2_RNA	NM_007274	NP_009205	O00154	BACH_HUMAN	acyl-CoA thioesterase 7 isoform hBACHa	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						mitochondrion|nucleus	carboxylesterase activity|fatty-acyl-CoA binding|palmitoyl-CoA hydrolase activity				0	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)		GGCAGATCTGGATGGCGGACG	0.761													4	11					0	0	0.000602	0	0
TNFRSF25	8718	broad.mit.edu	37	1	6521580	6521581	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:6521580_6521581GG>AA	uc001ane.2	-	10	1255_1256	c.1167_1168CC>TT	c.(1165-1170)GGCCTC>GGTTTC	p.L390F	TNFRSF25_uc001ana.2_Missense_Mutation_p.L207F|TNFRSF25_uc001anb.2_RNA|TNFRSF25_uc001anc.2_RNA|TNFRSF25_uc001and.2_Missense_Mutation_p.L163F|TNFRSF25_uc009vlz.2_RNA|TNFRSF25_uc001anf.2_Missense_Mutation_p.L353F|TNFRSF25_uc001ang.2_Missense_Mutation_p.L345F|TNFRSF25_uc001anh.2_Missense_Mutation_p.L399F	NM_003790	NP_003781	Q93038	TNR25_HUMAN	tumor necrosis factor receptor superfamily,	390	Death.|Cytoplasmic (Potential).				apoptosis|induction of apoptosis by extracellular signals	cytosol|extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity			central_nervous_system(2)|breast(1)	3	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)		ACGGCTCCGAGGCCCGCGGGCT	0.703													3	3					0	0	0.004672	0	0
KIF1B	23095	broad.mit.edu	37	1	10386322	10386322	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:10386322C>T	uc001aqx.3	+	27	3031	c.2829C>T	c.(2827-2829)GCC>GCT	p.A943A	KIF1B_uc001aqw.3_Silent_p.A897A|KIF1B_uc001aqy.2_Silent_p.A917A|KIF1B_uc001aqz.2_Silent_p.A943A|KIF1B_uc001ara.2_Silent_p.A903A|KIF1B_uc001arb.2_Silent_p.A929A	NM_015074	NP_055889	O60333	KIF1B_HUMAN	kinesin family member 1B isoform b	943					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)		TGGATGACGCCGGCTCTGACG	0.552													30	24					0	0	0.001786	0	0
C1orf127	148345	broad.mit.edu	37	1	11008769	11008769	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:11008769G>A	uc010oao.1	-	8	981	c.976C>T	c.(976-978)CAC>TAC	p.H326Y	C1orf127_uc001arr.1_Missense_Mutation_p.H308Y|C1orf127_uc001ars.1_Missense_Mutation_p.H300Y	NM_173507	NP_775778	B7ZLG7	B7ZLG7_HUMAN	hypothetical protein LOC148345	326										ovary(1)	1	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		GGTGTGGGGTGTCCAGGGATC	0.667													21	18					0	0	0.001882	0	0
VPS13D	55187	broad.mit.edu	37	1	12331142	12331142	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:12331142C>T	uc001atv.2	+	17	2205	c.2064C>T	c.(2062-2064)ATC>ATT	p.I688I	VPS13D_uc001atw.2_Silent_p.I688I	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	688					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)		AGGCAGAAATCCGGCAAACTC	0.473													25	22					0	0	0.003954	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18808266	18808267	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:18808266_18808267CC>TT	uc001bax.2	+	1	843_844	c.791_792CC>TT	c.(790-792)TCC>TTT	p.S264F	KLHDC7A_uc009vpg.2_Missense_Mutation_p.S46F	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	264						integral to membrane				ovary(2)|upper_aerodigestive_tract(1)	3		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ACCTTCTCATCCATAGCCCGCG	0.589													23	22					0	0	0.004672	0	0
SH2D5	400745	broad.mit.edu	37	1	21048471	21048471	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:21048471G>A	uc001bdt.1	-	9	1459	c.834C>T	c.(832-834)TTC>TTT	p.F278F	SH2D5_uc009vpy.1_Silent_p.F362F|SH2D5_uc001bdu.1_RNA	NM_001103160	NP_001096630	Q6ZV89	SH2D5_HUMAN	SH2 domain containing 5 isoform 2	278	SH2.										0		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-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;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCAGGCTGGGGAACTCTGCCG	0.662													10	12					0	0	0.001855	0	0
HSPG2	3339	broad.mit.edu	37	1	22161318	22161318	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:22161318A>G	uc001bfj.2	-	77	10614	c.10574T>C	c.(10573-10575)GTT>GCT	p.V3525A	HSPG2_uc009vqd.2_Missense_Mutation_p.V3526A	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	3525	Ig-like C2-type 21.				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)	GTGCCCTCCAACTTTGCTCCA	0.627													13	25					0	0	0.001855	0	0
MYOM3	127294	broad.mit.edu	37	1	24383871	24383871	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:24383871C>T	uc001bin.3	-	37	4460	c.4297G>A	c.(4297-4299)GAG>AAG	p.E1433K	MYOM3_uc001bil.3_Missense_Mutation_p.E326K|MYOM3_uc001bim.3_Missense_Mutation_p.E1090K	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	1433										skin(2)|ovary(1)	3		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CTCTTCAGCTCCTTGGGCTCG	0.582													14	8					0	0	0.002450	0	0
MYOM3	127294	broad.mit.edu	37	1	24406673	24406673	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:24406673C>T	uc001bin.3	-	20	2582	c.2419G>A	c.(2419-2421)GAT>AAT	p.D807N	MYOM3_uc001bim.3_Missense_Mutation_p.D464N|MYOM3_uc001bio.2_Missense_Mutation_p.D807N	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	807	Fibronectin type-III 5.									skin(2)|ovary(1)	3		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GCCCGTACATCGTACGGGGGG	0.453													9	21					0	0	0.004482	0	0
CNKSR1	10256	broad.mit.edu	37	1	26508373	26508373	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:26508373T>A	uc001bln.3	+	4	476	c.418T>A	c.(418-420)TTC>ATC	p.F140I	CNKSR1_uc010oex.1_RNA|CNKSR1_uc001blm.3_Missense_Mutation_p.F140I|CNKSR1_uc009vsd.2_5'UTR|CNKSR1_uc009vse.2_5'UTR|CNKSR1_uc001blo.2_5'UTR	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras	140	CRIC.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			lung(1)|kidney(1)	2		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)		CTTAAATGATTTCTCAGCATG	0.438													14	62					0	0	0.004990	0	0
CCDC21	64793	broad.mit.edu	37	1	26584097	26584098	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:26584097_26584098GG>AA	uc001bls.1	+	5	1044_1045	c.913_914GG>AA	c.(913-915)GGA>AAA	p.G305K	CCDC21_uc001blr.2_Missense_Mutation_p.G305K|CCDC21_uc010ofa.1_Missense_Mutation_p.G254K	NM_022778	NP_073615	Q6P2H3	CEP85_HUMAN	coiled-coil domain containing 21	305						centrosome|nucleolus|spindle pole					0		all_cancers(24;7e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.6e-26)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;9.48e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00917)|READ - Rectum adenocarcinoma(331;0.0649)		GCTTCAGAATGGAGCCATCTGC	0.495													88	161					0	0	0.004672	0	0
C1orf172	126695	broad.mit.edu	37	1	27278511	27278512	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:27278511_27278512CC>TT	uc001bni.1	-	2	449_450	c.360_361GG>AA	c.(358-363)GAGGGG>GAAAGG	p.G121R		NM_152365	NP_689578	Q8NAX2	CA172_HUMAN	hypothetical protein LOC126695	121										large_intestine(1)|ovary(1)	2		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		TCAGCAGTCCCCTCAGTGGAGT	0.673													10	7					0	0	0.004672	0	0
C1orf172	126695	broad.mit.edu	37	1	27278778	27278778	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:27278778T>C	uc001bni.1	-	2	183	c.94A>G	c.(94-96)AAA>GAA	p.K32E		NM_152365	NP_689578	Q8NAX2	CA172_HUMAN	hypothetical protein LOC126695	32	Pro-rich.									large_intestine(1)|ovary(1)	2		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		TGAGGTGGTTTATCATATGTC	0.637													14	45					0	0	0.003163	0	0
PTAFR	5724	broad.mit.edu	37	1	28477119	28477119	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:28477119G>A	uc001bpl.2	-	2	541	c.414C>T	c.(412-414)TCC>TCT	p.S138S	PTAFR_uc001bpm.3_Silent_p.S138S|PTAFR_uc009vte.2_Silent_p.S138S	NM_000952	NP_000943	P25105	PTAFR_HUMAN	platelet-activating factor receptor	138	Helical; Name=4; (Potential).				chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity				0		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		AGATGACCAAGGACAAAGAGA	0.577													22	35					0	0	0.002299	0	0
MED18	54797	broad.mit.edu	37	1	28661301	28661301	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:28661301C>T	uc001bpt.3	+	3	692	c.447C>T	c.(445-447)TTC>TTT	p.F149F	MED18_uc009vtg.2_Silent_p.F149F	NM_017638	NP_060108	Q9BUE0	MED18_HUMAN	mediator complex subunit 18	149					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	identical protein binding				0		Colorectal(325;0.000147)|Lung NSC(340;0.000818)|all_lung(284;0.000996)|Renal(390;0.00357)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0557)|Ovarian(437;0.113)		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0141)|READ - Rectum adenocarcinoma(331;0.0649)		ACAAGATTTTCCGCATCCTGG	0.498													19	50					0	0	0.008871	0	0
COL16A1	1307	broad.mit.edu	37	1	32134409	32134409	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:32134409C>T	uc001btk.1	-	50	3608	c.3243G>A	c.(3241-3243)GGG>GGA	p.G1081G	COL16A1_uc001bti.1_5'UTR|COL16A1_uc001btj.1_Silent_p.G879G	NM_001856	NP_001847	Q07092	COGA1_HUMAN	alpha 1 type XVI collagen precursor	1081	Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			ovary(8)	8		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TTACCGGCTCCCCCTTGTCTC	0.612													17	33					0	0	0.006122	0	0
IQCC	55721	broad.mit.edu	37	1	32673255	32673255	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:32673255C>T	uc001bum.2	+	5	1020	c.973C>T	c.(973-975)CCC>TCC	p.P325S	IQCC_uc009vua.2_Missense_Mutation_p.P405S|IQCC_uc010ogz.1_Missense_Mutation_p.P225S|DCDC2B_uc001bun.2_5'Flank	NM_018134	NP_060604	Q4KMZ1	IQCC_HUMAN	IQ motif containing C isoform 2	325										ovary(4)	4		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GGACCAGACCCCCAGAGGTTT	0.532													26	47					0	0	0.004656	0	0
KIAA1522	57648	broad.mit.edu	37	1	33236042	33236042	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:33236042C>T	uc001bvv.2	+	6	1221	c.1085C>T	c.(1084-1086)TCC>TTC	p.S362F	KIAA1522_uc001bvu.1_Missense_Mutation_p.S421F|KIAA1522_uc010ohm.1_Missense_Mutation_p.S373F|KIAA1522_uc010ohn.1_Intron	NM_020888	NP_065939	Q9P206	K1522_HUMAN	hypothetical protein LOC57648	362	Ser-rich.										0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CACTCTCAATCCTCCGACACC	0.647													4	7					0	0	0.000602	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33960447	33960447	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:33960447C>T	uc001bxj.3	+	8	2670	c.2503C>T	c.(2503-2505)CCA>TCA	p.P835S	ZSCAN20_uc009vui.2_Missense_Mutation_p.P834S	NM_145238	NP_660281	P17040	ZSC20_HUMAN	zinc finger protein 31	835					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TGCCCAAAGCCCATCTTTTAG	0.473													38	130					0	0	0.006230	0	0
CSMD2	114784	broad.mit.edu	37	1	34164353	34164353	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:34164353C>T	uc001bxn.1	-	24	3834	c.3805G>A	c.(3805-3807)GCC>ACC	p.A1269T	CSMD2_uc001bxm.1_Missense_Mutation_p.A1309T|CSMD2_uc001bxo.1_Missense_Mutation_p.A182T	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1269	Sushi 7.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCCCTCCTACCGACACAGGTG	0.612													5	70					0	0	0.000602	0	0
CSMD2	114784	broad.mit.edu	37	1	34383744	34383744	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:34383744C>T	uc001bxn.1	-	5	780	c.751G>A	c.(751-753)GAT>AAT	p.D251N	CSMD2_uc001bxm.1_Missense_Mutation_p.D291N	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	251	CUB 2.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCGTAACCATCCTCCAGCTGG	0.527													12	19					0	0	0.001855	0	0
C1orf94	84970	broad.mit.edu	37	1	34667806	34667806	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:34667806G>A	uc001bxs.3	+	4	1221	c.822G>A	c.(820-822)CTG>CTA	p.L274L	C1orf94_uc001bxt.2_Silent_p.L464L	NM_032884	NP_116273	Q6P1W5	CA094_HUMAN	hypothetical protein LOC84970 isoform b	274							protein binding				0		Myeloproliferative disorder(586;0.0393)				GGCTCAACCTGAACTATCCAC	0.522													20	50					0	0	0.003954	0	0
GJB4	127534	broad.mit.edu	37	1	35227594	35227594	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:35227594G>A	uc001bxv.1	+	2	1109	c.739G>A	c.(739-741)GAT>AAT	p.D247N	GJB4_uc001bxw.3_Missense_Mutation_p.D247N	NM_153212	NP_694944	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4	247	Cytoplasmic (Potential).				cell communication	connexon complex|integral to membrane	gap junction channel activity			ovary(2)|central_nervous_system(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GCACCCTGAGGATGGGAACTC	0.617													10	25					0	0	0.008291	0	0
KIAA0319L	79932	broad.mit.edu	37	1	35972519	35972520	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:35972519_35972520CC>TT	uc001byx.2	-	3	617_618	c.359_360GG>AA	c.(358-360)AGG>AAA	p.R120K	KIAA0319L_uc010ohw.1_RNA|KIAA0319L_uc001byz.2_Missense_Mutation_p.R120K|KIAA0319L_uc010ohx.1_Missense_Mutation_p.R120K	NM_024874	NP_079150	Q8IZA0	K319L_HUMAN	dyslexia susceptibility 2-like	120	MANSC.|Extracellular (Potential).					cytoplasmic vesicle part|integral to membrane	protein binding			skin(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGGAGTGTGTCCTAAAAGCCCG	0.515													24	56					0	0	0.004672	0	0
C1orf113	79729	broad.mit.edu	37	1	36786171	36786171	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:36786171C>T	uc010oia.1	+	14	1935	c.1907C>T	c.(1906-1908)CCT>CTT	p.P636L	C1orf113_uc010oib.1_Missense_Mutation_p.P525L|C1orf113_uc010oic.1_RNA|C1orf113_uc009vuz.1_Missense_Mutation_p.P282L	NM_001162530	NP_001156002	A4FU49	SH321_HUMAN	SH3 domain-containing protein C1orf113 isoform	520											0		Myeloproliferative disorder(586;0.0393)				GAATTGCCCCCTAAAGAGGAA	0.577													15	32					0	0	0.003163	0	0
GRIK3	2899	broad.mit.edu	37	1	37267467	37267467	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:37267467G>A	uc001caz.2	-	16	2880	c.2745C>T	c.(2743-2745)GCC>GCT	p.A915A		NM_000831	NP_000822	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	915	Cytoplasmic (Potential).				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			ovary(3)|skin(2)|large_intestine(1)|breast(1)	7		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GGAACACAGGGGCTAAGGATG	0.612													21	37					0	0	0.002780	0	0
GRIK3	2899	broad.mit.edu	37	1	37267627	37267628	+	Missense_Mutation	DNP	AC	GT	GT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:37267627_37267628AC>GT	uc001caz.2	-	16	2719_2720	c.2584_2585GT>AC	c.(2584-2586)GTG>ACG	p.V862T		NM_000831	NP_000822	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	862	Cytoplasmic (Potential).				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			ovary(3)|skin(2)|large_intestine(1)|breast(1)	7		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CTCATCGGCCACGGTGCTGCAG	0.594													7	18					0	0	0.004672	0	0
GRIK3	2899	broad.mit.edu	37	1	37270690	37270690	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:37270690G>A	uc001caz.2	-	15	2598	c.2463C>T	c.(2461-2463)ATC>ATT	p.I821I	GRIK3_uc001cba.1_Silent_p.I821I	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	821	Helical; (Potential).				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			ovary(3)|skin(2)|large_intestine(1)|breast(1)	7		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	AGATGCCCCCGATCTTCTGGA	0.597													22	44					0	0	0.005443	0	0
GRIK3	2899	broad.mit.edu	37	1	37346270	37346270	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:37346270C>T	uc001caz.2	-	3	650	c.515G>A	c.(514-516)TGG>TAG	p.W172*	GRIK3_uc001cba.1_Nonsense_Mutation_p.W172*	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	172	Extracellular (Potential).				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			ovary(3)|skin(2)|large_intestine(1)|breast(1)	7		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GGCTGACCGCCACTTGAGGTA	0.632													47	109					0	0	0.003610	0	0
MANEAL	149175	broad.mit.edu	37	1	38265299	38265299	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:38265299C>T	uc001cby.2	+	4	879	c.798C>T	c.(796-798)CTC>CTT	p.L266L	MANEAL_uc001cbx.2_Intron|MANEAL_uc001cbz.2_Silent_p.L44L	NM_001113482	NP_001106954	Q5VSG8	MANEL_HUMAN	mannosidase, endo-alpha-like isoform 3	266	Lumenal (Potential).					Golgi membrane|integral to membrane	hydrolase activity				0	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GCCTCCCACTCTTTTATATCT	0.557													31	74					0	0	0.003271	0	0
SF3A3	10946	broad.mit.edu	37	1	38450406	38450406	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:38450406G>A	uc001cci.2	-	5	473	c.349C>T	c.(349-351)CGA>TGA	p.R117*	SF3A3_uc010oik.1_Nonsense_Mutation_p.R64*	NM_006802	NP_006793	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3	117					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding				0	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GGATTCTCTCGAGCCTTCAGG	0.388													20	64					0	0	0.001523	0	0
COL9A2	1298	broad.mit.edu	37	1	40773873	40773873	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:40773873T>A	uc001cfh.1	-	17	961	c.891A>T	c.(889-891)AAA>AAT	p.K297N	COL9A2_uc001cfi.1_Missense_Mutation_p.K116N	NM_001852	NP_001843	Q14055	CO9A2_HUMAN	alpha 2 type IX collagen precursor	297	Triple-helical region 3 (COL3).				axon guidance|skeletal system development	collagen type IX				ovary(2)	2	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			CCGTTGCTCCTTTCGGGCCTG	0.567													12	15					0	0	0.001855	0	0
SLC2A1	6513	broad.mit.edu	37	1	43395707	43395707	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:43395707C>T	uc001cik.2	-	5	1042	c.517_splice	c.e5-1	p.V173_splice		NM_006516	NP_006507	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose						carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(2)|pancreas(2)|ovary(1)	5	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	GGCCGAACACCTGGGGGAAGC	0.642													4	30					0	0	0.001168	0	0
TIE1	7075	broad.mit.edu	37	1	43786957	43786957	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:43786957T>G	uc001ciu.2	+	20	3204	c.3125T>G	c.(3124-3126)CTT>CGT	p.L1042R	TIE1_uc010oke.1_Missense_Mutation_p.L997R|TIE1_uc009vwq.2_Missense_Mutation_p.L998R|TIE1_uc010okg.1_Missense_Mutation_p.L687R	NM_005424	NP_005415	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and	1042	Cytoplasmic (Potential).|Protein kinase.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTTGGAGTCCTTCTTTGGGAG	0.552													33	75					0	0	0.007835	0	0
PTPRF	5792	broad.mit.edu	37	1	44069127	44069127	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:44069127C>T	uc001cjr.2	+	15	2721	c.2381C>T	c.(2380-2382)TCC>TTC	p.S794F	PTPRF_uc001cjs.2_Missense_Mutation_p.S785F|PTPRF_uc001cju.2_Missense_Mutation_p.S365F|PTPRF_uc009vwt.2_Missense_Mutation_p.S356F|PTPRF_uc001cjv.2_Missense_Mutation_p.S254F|PTPRF_uc001cjw.2_Missense_Mutation_p.S20F	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	794	Fibronectin type-III 5.|Extracellular (Potential).				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)				ACCACCTACTCCGTTACTGTT	0.582													21	34					0	0	0.002780	0	0
DMAP1	55929	broad.mit.edu	37	1	44680553	44680553	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:44680553T>G	uc001clq.1	+	4	456	c.376T>G	c.(376-378)TTT>GTT	p.F126V	DMAP1_uc010okq.1_Missense_Mutation_p.F152V|DMAP1_uc010okr.1_Missense_Mutation_p.F126V|DMAP1_uc010oks.1_Missense_Mutation_p.F126V|DMAP1_uc010okt.1_Missense_Mutation_p.F126V|DMAP1_uc001clr.1_Missense_Mutation_p.F126V|DMAP1_uc001cls.1_Missense_Mutation_p.F126V|DMAP1_uc010oku.1_Missense_Mutation_p.F126V	NM_001034024	NP_001029196	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	126					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)					GGACTACCCCTTTGCCAGGTT	0.572													9	35					0	0	0.008291	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45485811	45485811	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:45485811C>T	uc001cnd.2	-	13	2850	c.2622G>A	c.(2620-2622)CGG>CGA	p.R874R		NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM domain containing 5	874							zinc ion binding				0	Acute lymphoblastic leukemia(166;0.155)					ATAAGGTCATCCGCATCACCT	0.522													11	25					0	0	0.001855	0	0
TESK2	10420	broad.mit.edu	37	1	45887402	45887403	+	Missense_Mutation	DNP	GA	AT	AT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:45887402_45887403GA>AT	uc001cns.1	-	3	741_742	c.338_339TC>AT	c.(337-339)ATC>AAT	p.I113N	TESK2_uc009vxr.1_Missense_Mutation_p.I113N|TESK2_uc010olo.1_Missense_Mutation_p.I30N|TESK2_uc009vxs.1_5'UTR|TESK2_uc010olp.1_Missense_Mutation_p.I113N	NM_007170	NP_009101	Q96S53	TESK2_HUMAN	testis-specific protein kinase 2	113	Protein kinase.				actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(2)|breast(2)|pancreas(1)	5	Acute lymphoblastic leukemia(166;0.155)					ATTACCTAAGGATGTTGGGATG	0.426													39	124					0	0	0.004672	0	0
TSPAN1	10103	broad.mit.edu	37	1	46649919	46649919	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:46649919C>T	uc001cpd.2	+	4	578	c.114C>T	c.(112-114)TCC>TCT	p.S38S	TSPAN1_uc009vyd.1_Silent_p.S38S	NM_005727	NP_005718	O60635	TSN1_HUMAN	tetraspan 1	38	Extracellular (Potential).					integral to membrane|lysosomal membrane				ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)	Medulloblastoma(700;0.00498)|all_neural(321;0.0212)				ATGGGGCATCCTTTCTGAAGA	0.572													17	62					0	0	0.008871	0	0
KIAA0494	9813	broad.mit.edu	37	1	47183625	47183625	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:47183625G>A	uc001cqk.3	-	1	1112	c.135C>T	c.(133-135)TCC>TCT	p.S45S	KIAA0494_uc010omh.1_Silent_p.S45S|KIAA0494_uc001cql.1_Silent_p.S45S	NM_014774	NP_055589	O75071	K0494_HUMAN	hypothetical protein LOC9813	45							calcium ion binding				0	Acute lymphoblastic leukemia(166;0.155)					CTTCCTCTTCGGAGCTGGACT	0.557													15	30					0	0	0.003163	0	0
CYP4B1	1580	broad.mit.edu	37	1	47282750	47282750	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:47282750C>T	uc001cqm.3	+	9	1185	c.1101C>T	c.(1099-1101)ACC>ACT	p.T367T	CYP4B1_uc001cqn.3_Silent_p.T368T|CYP4B1_uc009vym.2_Silent_p.T353T|CYP4B1_uc010omk.1_Silent_p.T204T	NM_000779	NP_000770	P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B,	367					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(166;0.155)					CTTATCTGACCATGTGCATCA	0.547													33	93					0	0	0.004289	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47333708	47333708	+	RNA	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:47333708G>A	uc001cqo.1	-	8		c.1019C>T			CYP4Z2P_uc009vyn.1_RNA	NR_002788				Homo sapiens cDNA FLJ40054 fis, clone TBAES2000315, weakly similar to CYTOCHROME P450 4A1 (EC 1.14.15.3).												0						AGCAGTAAAAGATCCAGGAGA	0.453													12	13					0	0	0.000978	0	0
PODN	127435	broad.mit.edu	37	1	53535775	53535775	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:53535775G>C	uc001cuv.2	+	2	399	c.392G>C	c.(391-393)GGC>GCC	p.G131A	PODN_uc001cuw.2_Missense_Mutation_p.G112A|PODN_uc010onr.1_Missense_Mutation_p.G112A|PODN_uc010ons.1_Missense_Mutation_p.G131A	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN	podocan	83	LRRNT.				negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			ovary(1)|pancreas(1)	2						GTGGACTGTGGCGGTATTGAC	0.682													20	39					0	0	0.002299	0	0
SLC1A7	6512	broad.mit.edu	37	1	53553807	53553807	+	Silent	SNP	G	A	A	rs137924327		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:53553807G>A	uc001cuy.2	-	11	1725	c.1557C>T	c.(1555-1557)TCC>TCT	p.S519S	SLC1A7_uc001cux.2_Silent_p.S172S	NM_006671	NP_006662	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter),	519						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			ovary(2)|large_intestine(1)	3				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	GGGTGAGCTCGGAGGCCTCGG	0.632													18	25					0	0	0.008871	0	0
LRRC42	115353	broad.mit.edu	37	1	54417990	54417991	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:54417990_54417991CC>TT	uc001cwj.1	+	2	518_519	c.318_319CC>TT	c.(316-321)TCCCTT>TCTTTT	p.L107F	LRRC42_uc001cwl.1_Missense_Mutation_p.L107F|LRRC42_uc001cwk.1_Missense_Mutation_p.L107F|LRRC42_uc009vzm.1_Missense_Mutation_p.L107F	NM_052940	NP_443172	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	107											0						ACATTGATTCCCTTATTGGCTT	0.5													18	67					0	0	0.004672	0	0
C1orf83	127428	broad.mit.edu	37	1	54534469	54534469	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:54534469T>G	uc001cwt.1	+	3	343	c.143T>G	c.(142-144)ATG>AGG	p.M48R	C1orf83_uc001cwu.1_Intron	NM_153035	NP_694580	Q96MN5	TEAN2_HUMAN	hypothetical protein LOC127428	48	TFIIS N-terminal.				transcription, DNA-dependent	nucleus	DNA binding				0						TGGAAAACTATGCTGGAGCTT	0.353													12	23					0	0	0.001368	0	0
PRKAA2	5563	broad.mit.edu	37	1	57161832	57161832	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:57161832G>A	uc001cyk.3	+	6	859	c.788G>A	c.(787-789)AGA>AAA	p.R263K		NM_006252	NP_006243	P54646	AAPK2_HUMAN	AMP-activated protein kinase alpha 2 catalytic	263	Protein kinase.				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(4)|ovary(1)|stomach(1)	6						AAAGACATAAGGTGATTTTTC	0.294													34	108					0	0	0.002836	0	0
PRKAA2	5563	broad.mit.edu	37	1	57173217	57173217	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:57173217G>A	uc001cyk.3	+	9	1561	c.1490G>A	c.(1489-1491)AGA>AAA	p.R497K		NM_006252	NP_006243	P54646	AAPK2_HUMAN	AMP-activated protein kinase alpha 2 catalytic	497					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(4)|ovary(1)|stomach(1)	6						GGCTTACACAGACCAAGATCA	0.458													35	92					0	0	0.003755	0	0
C1orf168	199920	broad.mit.edu	37	1	57192233	57192233	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:57192233C>T	uc001cym.3	-	16	2223	c.1817G>A	c.(1816-1818)TGG>TAG	p.W606*	C1orf168_uc009vzu.1_RNA|C1orf168_uc001cyl.2_RNA	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	hypothetical protein LOC199920	606										ovary(3)|skin(2)	5						CTTGGGCTTCCACATTTTCAG	0.363													17	73					0	0	0.001523	0	0
C8B	732	broad.mit.edu	37	1	57411605	57411606	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:57411605_57411606CC>TT	uc001cyp.2	-	7	1060_1061	c.993_994GG>AA	c.(991-996)GGGGAA>GGAAAA	p.E332K	C8B_uc010oon.1_Missense_Mutation_p.E270K|C8B_uc010ooo.1_Missense_Mutation_p.E280K	NM_000066	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	332	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				central_nervous_system(2)|large_intestine(1)|ovary(1)	4						TCTCTGTATTCCCCGTAGCTGT	0.49													17	39					0	0	0.004672	0	0
DAB1	1600	broad.mit.edu	37	1	57611083	57611083	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:57611083G>A	uc001cys.1	-	5	761	c.87C>T	c.(85-87)GCC>GCT	p.A29A	DAB1_uc001cyt.1_Silent_p.A29A|DAB1_uc001cyq.1_Silent_p.A29A|DAB1_uc001cyr.1_Silent_p.A29A|DAB1_uc009vzw.1_Silent_p.A29A|DAB1_uc009vzx.1_Silent_p.A29A	NM_021080	NP_066566	O75553	DAB1_HUMAN	disabled homolog 1	29					cell differentiation|nervous system development					skin(2)|ovary(1)	3						TTATCAAAGTGGCTTCACTGC	0.453													18	39					0	0	0.001882	0	0
TACSTD2	4070	broad.mit.edu	37	1	59042086	59042086	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:59042086C>T	uc001cyz.3	-	1	1081	c.743G>A	c.(742-744)GGA>GAA	p.G248E		NM_002353	NP_002344	P09758	TACD2_HUMAN	tumor-associated calcium signal transducer 2	248	Extracellular (Potential).				cell proliferation|cell surface receptor linked signaling pathway|visual perception	cytosol|integral to plasma membrane	receptor activity				0	all_cancers(7;6.54e-05)					CAGGGGTTCTCCGCGCACGCG	0.542													8	14					0	0	0.008291	0	0
C1orf87	127795	broad.mit.edu	37	1	60538248	60538248	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:60538248C>T	uc001czs.1	-	2	160	c.68G>A	c.(67-69)GGA>GAA	p.G23E		NM_152377	NP_689590	Q8N0U7	CA087_HUMAN	hypothetical protein LOC127795	23							calcium ion binding			ovary(1)|breast(1)	2						GTGTTTACTTCCAATGATTTT	0.393													27	55					0	0	0.002445	0	0
INADL	10207	broad.mit.edu	37	1	62237271	62237272	+	Silent	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:62237271_62237272CC>TT	uc001dab.2	+	6	807_808	c.693_694CC>TT	c.(691-696)AGCCTA>AGTTTA	p.231_232SL>SL	INADL_uc009waf.1_Silent_p.231_232SL>SL|INADL_uc001daa.2_Silent_p.231_232SL>SL|INADL_uc001dad.3_5'UTR	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	InaD-like	231_232					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)|skin(1)	4						CTTCTAGCAGCCTAAATGATAC	0.376													5	26					0	0	0.004672	0	0
KANK4	163782	broad.mit.edu	37	1	62728940	62728940	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:62728940G>A	uc001dah.3	-	7	2740	c.2363C>T	c.(2362-2364)TCC>TTC	p.S788F	KANK4_uc001dai.3_Missense_Mutation_p.S160F|KANK4_uc001daf.3_5'UTR|KANK4_uc001dag.3_Missense_Mutation_p.S144F	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	ankyrin repeat domain 38	788										ovary(3)|skin(2)|lung(1)	6						CTTCCGGCTGGAGACGCGGAA	0.572													7	19					0	0	0.003080	0	0
PGM1	5236	broad.mit.edu	37	1	64095621	64095622	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:64095621_64095622CC>TT	uc001dbh.2	+	3	631_632	c.418_419CC>TT	c.(418-420)CCA>TTA	p.P140L	PGM1_uc010ooy.1_5'UTR|PGM1_uc010ooz.1_Missense_Mutation_p.P158L	NM_002633	NP_002624	P36871	PGM1_HUMAN	phosphoglucomutase 1	140					cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity			ovary(2)|kidney(1)	3						AGGTCCTGCTCCAGAAGCAATA	0.431													11	37					0	0	0.004672	0	0
DNAJC6	9829	broad.mit.edu	37	1	65858274	65858274	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:65858274G>A	uc001dcd.1	+	12	1622	c.1458G>A	c.(1456-1458)CAG>CAA	p.Q486Q	DNAJC6_uc001dcc.1_Silent_p.Q517Q|DNAJC6_uc010opc.1_Silent_p.Q473Q|DNAJC6_uc001dce.1_Silent_p.Q543Q	NM_014787	NP_055602	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	486	Pro-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			large_intestine(1)|lung(1)|ovary(1)	3						AAAAGCAGCAGGAGCCAGCAG	0.562													6	22					0	0	0.001984	0	0
DIRAS3	9077	broad.mit.edu	37	1	68512384	68512384	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:68512384C>T	uc001ded.2	-	2	892	c.597G>A	c.(595-597)AAG>AAA	p.K199K	uc001deb.1_Intron|uc001dec.1_Intron	NM_004675	NP_004666	O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	199					regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			skin(1)	1						TGGGCTTTTTCTTGTAATTCA	0.532													29	82					0	0	0.006320	0	0
FPGT	8790	broad.mit.edu	37	1	74671073	74671073	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:74671073C>T	uc001dgb.1	+	4	1379	c.1342C>T	c.(1342-1344)CCC>TCC	p.P448S	TNNI3K_uc001dgc.1_Intron|TNNI3K_uc001dgd.2_Intron|TNNI3K_uc001dge.1_Intron|FPGT_uc010oqt.1_Missense_Mutation_p.P73S|FPGT_uc010oqu.1_Missense_Mutation_p.P194S|FPGT_uc010oqv.1_Intron	NM_003838	NP_003829	O14772	FPGT_HUMAN	fucose-1-phosphate guanyltransferase	448					fucose metabolic process	cytoplasm	fucose-1-phosphate guanylyltransferase activity|GTP binding			skin(1)	1						AGCTGCCCTCCCCGCACATTC	0.413													39	82					0	0	0.002222	0	0
TNNI3K	51086	broad.mit.edu	37	1	74819684	74819684	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:74819684C>T	uc001dgf.1	+	11	1099	c.1048C>T	c.(1048-1050)CAC>TAC	p.H350Y	TNNI3K_uc001dgc.1_Missense_Mutation_p.H451Y|TNNI3K_uc001dgd.2_Missense_Mutation_p.H451Y|TNNI3K_uc001dge.1_Missense_Mutation_p.H451Y	NM_015978	NP_057062	Q59H18	TNI3K_HUMAN	TNNI3 interacting kinase isoform b	350	ANK 9.					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding			large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10						TGCTTGCTACCACGGTCACAT	0.408													18	45					0	0	0.007413	0	0
LPHN2	23266	broad.mit.edu	37	1	82456096	82456096	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:82456096G>A	uc001dit.3	+	21	3660	c.3479G>A	c.(3478-3480)AGG>AAG	p.R1160K	LPHN2_uc001dis.2_Missense_Mutation_p.R140K|LPHN2_uc001diu.2_Missense_Mutation_p.R1160K|LPHN2_uc001div.2_3'UTR|LPHN2_uc009wcd.2_3'UTR|LPHN2_uc001diw.2_Missense_Mutation_p.R787K	NM_012302	NP_036434	O95490	LPHN2_HUMAN	latrophilin 2 precursor	1216	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AACAATGCCAGGGATACAAGT	0.418													28	55					0	0	0.003755	0	0
PRKACB	5567	broad.mit.edu	37	1	84668433	84668433	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:84668433C>T	uc001djj.2	+	8	974	c.710C>T	c.(709-711)CCC>CTC	p.P237L	PRKACB_uc001djl.2_Missense_Mutation_p.P284L|PRKACB_uc010ort.1_Missense_Mutation_p.P244L|PRKACB_uc001djn.2_Missense_Mutation_p.P241L|PRKACB_uc010oru.1_Missense_Mutation_p.P225L|PRKACB_uc001djp.2_Missense_Mutation_p.P243L|PRKACB_uc001djq.2_Missense_Mutation_p.P207L|PRKACB_uc010orv.1_Missense_Mutation_p.P224L|PRKACB_uc001dji.2_Missense_Mutation_p.P237L|PRKACB_uc001djk.2_Missense_Mutation_p.P284L|PRKACB_uc009wcf.1_Missense_Mutation_p.P243L	NM_002731	NP_002722	P22694	KAPCB_HUMAN	cAMP-dependent protein kinase catalytic subunit	237	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding			lung(2)|ovary(1)	3				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		GCTGGCTATCCCCCATTCTTT	0.373													25	73					0	0	0.003330	0	0
LOC400759	400759	broad.mit.edu	37	1	89875863	89875863	+	RNA	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:89875863G>A	uc009wcy.1	+	2		c.85G>A				NR_003133				Homo sapiens cDNA, FLJ17004.												0						TTGCAGACAAGGGAACACCCC	0.433													12	35					0	0	0.000978	0	0
BARHL2	343472	broad.mit.edu	37	1	91182155	91182155	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:91182155C>T	uc001dns.2	-	1	640	c.598G>A	c.(598-600)GAT>AAT	p.D200N		NM_020063	NP_064447	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	200						nucleus	sequence-specific DNA binding			ovary(1)	1		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		CTCTGGGAATCCTCCCGCTTG	0.612													27	42					0	0	0.002096	0	0
DPYD	1806	broad.mit.edu	37	1	97658667	97658667	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:97658667C>T	uc001drv.2	-	20	2717	c.2580G>A	c.(2578-2580)CAG>CAA	p.Q860Q		NM_000110	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase isoform 1	860					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			ovary(3)|skin(3)|breast(2)	8		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	GTTTCCCTTTCTGGTGACTCA	0.448													36	57					0	0	0.006999	0	0
HIAT1	64645	broad.mit.edu	37	1	100546060	100546060	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:100546060C>T	uc001dst.2	+	11	1111	c.1111C>T	c.(1111-1113)CAA>TAA	p.Q371*		NM_033055	NP_149044	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	371	Extracellular (Potential).				transmembrane transport	integral to membrane|plasma membrane	transporter activity				0		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		AGGTGTCGTTCAAGGAATGAT	0.363													31	77					0	0	0.003271	0	0
COL11A1	1301	broad.mit.edu	37	1	103427776	103427776	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:103427776C>T	uc001dul.2	-	40	3388	c.3070G>A	c.(3070-3072)GGA>AGA	p.G1024R	COL11A1_uc001duk.2_Missense_Mutation_p.G220R|COL11A1_uc001dum.2_Missense_Mutation_p.G1036R|COL11A1_uc001dun.2_Missense_Mutation_p.G985R|COL11A1_uc009weh.2_Missense_Mutation_p.G908R	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	1024	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCACGTAATCCTGCTGGTCCA	0.388													35	94					0	0	0.008740	0	0
COL11A1	1301	broad.mit.edu	37	1	103467507	103467507	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:103467507C>T	uc001dul.2	-	24	2434	c.2116G>A	c.(2116-2118)GGT>AGT	p.G706S	COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.G718S|COL11A1_uc001dun.2_Missense_Mutation_p.G667S|COL11A1_uc009weh.2_Missense_Mutation_p.G590S	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	706	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCAATTGGACCTTGTGGACCA	0.348													19	63					0	0	0.002299	0	0
AMPD2	271	broad.mit.edu	37	1	110170727	110170727	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:110170727C>T	uc009wfh.1	+	11	1807	c.1265C>T	c.(1264-1266)TCG>TTG	p.S422L	AMPD2_uc009wfg.1_RNA|AMPD2_uc001dyb.1_Missense_Mutation_p.S341L|AMPD2_uc001dyc.1_Missense_Mutation_p.S422L|AMPD2_uc010ovr.1_Missense_Mutation_p.S347L|AMPD2_uc010ovs.1_Missense_Mutation_p.S304L|AMPD2_uc001dyd.1_Missense_Mutation_p.S303L|AMPD2_uc001dye.1_5'Flank	NM_004037	NP_004028	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2 (isoform L)	422					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			ovary(2)|breast(1)	3		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		ATCCATGCCTCGTCCTGCATG	0.607													12	18					0	0	0.000978	0	0
KCNA10	3744	broad.mit.edu	37	1	111060265	111060265	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:111060265A>C	uc001dzt.1	-	1	1533	c.1145T>G	c.(1144-1146)CTC>CGC	p.L382R		NM_005549	NP_005540	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related	382	Helical; Name=Segment S5; (Potential).					voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			ovary(3)|large_intestine(1)	4		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		TCCAATGAAGAGAAAGAAGAT	0.542													20	29					0	0	0.007413	0	0
ATP5F1	515	broad.mit.edu	37	1	111996918	111996918	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:111996918C>T	uc001ebc.2	+	3	584	c.163C>T	c.(163-165)CGT>TGT	p.R55C	ATP5F1_uc009wgf.1_Missense_Mutation_p.R202C|ATP5F1_uc001ebd.3_Intron	NM_001688	NP_001679	P24539	AT5F1_HUMAN	ATP synthase, H+ transporting, mitochondrial F0	55					ATP catabolic process|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding				0		all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		AGGAAAAGTTCGTTATGGACT	0.438													34	91					0	0	0.002445	0	0
MOV10	4343	broad.mit.edu	37	1	113232670	113232670	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:113232670C>T	uc001eck.2	+	5	1056	c.786C>T	c.(784-786)ACC>ACT	p.T262T	MOV10_uc001ecl.2_Silent_p.T262T|MOV10_uc001ecn.2_Silent_p.T262T|MOV10_uc001ecm.2_Silent_p.T202T|MOV10_uc009wgj.1_Silent_p.T202T	NM_001130079	NP_001123551	Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog	262					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			ovary(4)|skin(1)	5	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		CCCGGATCACCGGAAACCCTG	0.607													8	48					0	0	0.003080	0	0
SYCP1	6847	broad.mit.edu	37	1	115453110	115453110	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:115453110C>T	uc001efr.2	+	17	1622	c.1413C>T	c.(1411-1413)CTC>CTT	p.L471L	SYCP1_uc010owt.1_RNA|SYCP1_uc001efq.2_Silent_p.L471L|SYCP1_uc009wgw.2_Silent_p.L471L	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	471	Potential.				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding			skin(1)	1	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		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)		TTGGTCTTCTCCAAGCCAGAG	0.259													24	83					0	0	0.005443	0	0
PTGFRN	5738	broad.mit.edu	37	1	117527523	117527523	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:117527523C>T	uc001egv.1	+	8	2526	c.2389C>T	c.(2389-2391)CCA>TCA	p.P797S		NM_020440	NP_065173	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor negative regulator	797	Ig-like C2-type 6.|Extracellular (Potential).					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			liver(1)	1	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		TTCCGTGACTCCATGGGTGAA	0.532													8	45					0	0	0.008291	0	0
TBX15	6913	broad.mit.edu	37	1	119427724	119427724	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:119427724G>A	uc001ehl.1	-	8	1437	c.1122C>T	c.(1120-1122)GTC>GTT	p.V374V	TBX15_uc009whj.1_Silent_p.V198V	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	T-box 15	480						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|pancreas(1)	2	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		CTGCCTGCATGACATACTGAA	0.567													12	27					0	0	0.001855	0	0
NOTCH2	4853	broad.mit.edu	37	1	120458524	120458524	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:120458524G>A	uc001eik.2	-	34	7077	c.6821C>T	c.(6820-6822)CCA>CTA	p.P2274L		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	2274	Cytoplasmic (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCCCTCAGCTGGAGCCAGGAC	0.572			N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome				136	273					0	0	0.003610	0	0
PPIAL4G	644591	broad.mit.edu	37	1	143767740	143767740	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:143767740G>A	uc001ejt.2	-	1	142	c.109C>T	c.(109-111)CGT>TGT	p.R37C		NM_001123068	NP_001116540	A2BFH1	PAL4G_HUMAN	peptidylprolyl isomerase A (cyclophilin A)-like	37	PPIase cyclophilin-type.				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity				0						CTCAGAGCACGAAAGTTTTCT	0.478													63	180					0	0	0.003610	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144854639	144854639	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:144854639C>T	uc001elw.3	-	42	7122	c.6831G>A	c.(6829-6831)AGG>AGA	p.R2277R	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Silent_p.R2171R|PDE4DIP_uc001elv.3_Silent_p.R1284R	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	2277	Potential.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CCAGAAGTTCCCTTTCTGTTG	0.483			T	PDGFRB	MPD								25	179					0	0	0.005443	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144859817	144859817	+	Silent	SNP	G	A	A	rs72063878		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:144859817G>A	uc001elw.3	-	38	6558	c.6267C>T	c.(6265-6267)TCC>TCT	p.S2089S	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Silent_p.S1983S|PDE4DIP_uc001elv.3_Silent_p.S1096S	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	2089					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCTGGTTAATGGAGGAGGGGC	0.582			T	PDGFRB	MPD								9	73					0	0	0.008291	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144923702	144923702	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:144923702C>T	uc001elw.3	-	6	1047	c.756G>A	c.(754-756)GAG>GAA	p.E252E	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Silent_p.E318E|PDE4DIP_uc001emc.1_Silent_p.E252E|PDE4DIP_uc001emd.1_Silent_p.E252E|PDE4DIP_uc001emb.1_Silent_p.E415E|PDE4DIP_uc001eme.1_5'Flank|PDE4DIP_uc001emf.1_Silent_p.E39E	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	252	Potential.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGTTGGTGGCCTCTGTTTGCT	0.448			T	PDGFRB	MPD								35	190					0	0	0.004878	0	0
NOTCH2NL	388677	broad.mit.edu	37	1	145273348	145273348	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:145273348C>T	uc001emn.3	+	3	572	c.202C>T	c.(202-204)CAT>TAT	p.H68Y	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_5'UTR|NOTCH2NL_uc001emm.3_Missense_Mutation_p.H68Y|NOTCH2NL_uc001emo.2_Missense_Mutation_p.H68Y|NOTCH2NL_uc010oyh.1_RNA	NM_203458	NP_982283	Q7Z3S9	NT2NL_HUMAN	Notch homolog 2 N-terminal like protein	68	EGF-like 3.				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding			ovary(1)	1						CTCGACATCTCATCCATGCTT	0.557													58	863					0	0	0.003610	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	A	A	rs77484671		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:145367767G>A	uc001end.3	+	85	10623	c.10588G>A	c.(10588-10590)GAA>AAA	p.E3530K	NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	hypothetical protein LOC100132406	3455											0	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.254													5	39					0	0	0.000602	0	0
BCL9	607	broad.mit.edu	37	1	147095669	147095669	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:147095669C>T	uc001epq.2	+	10	3930	c.3190C>T	c.(3190-3192)CGA>TGA	p.R1064*	BCL9_uc010ozr.1_Intron	NM_004326	NP_004317	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	1064	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.115)					ACAGAATCCTCGAATTTCAGG	0.403			T	IGH@|IGL@	B-ALL								57	106					0	0	0.003610	0	0
HIST2H2BF	440689	broad.mit.edu	37	1	149398888	149398888	+	RNA	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:149398888C>T	uc010pbi.1	-	1		c.342G>A						Q5QNW6	H2B2F_HUMAN	Homo sapiens histone cluster 2, H3, pseudogene 2, mRNA (cDNA clone IMAGE:5190019).						nucleosome assembly	nucleosome|nucleus	DNA binding				0	Breast(34;0.0124)|all_hematologic(923;0.127)					AGGCGCACGGCCGTCTGGATC	0.652													10	18					0	0	0.008291	0	0
C1orf51	148523	broad.mit.edu	37	1	150257076	150257076	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:150257076C>T	uc001euh.2	+	5	727	c.591C>T	c.(589-591)GCC>GCT	p.A197A	C1orf51_uc001eui.2_Silent_p.A109A|C1orf51_uc001euj.2_Silent_p.A197A	NM_144697	NP_653298	Q8N365	CA051_HUMAN	hypothetical protein LOC148523	197											0	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)			AAATAGCTGCCCAGAAGTCAT	0.438													20	60					0	0	0.002299	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150530542	150530542	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:150530542G>A	uc001eux.2	+	14	2535	c.2299G>A	c.(2299-2301)GGA>AGA	p.G767R	ADAMTSL4_uc001euw.2_Missense_Mutation_p.G767R|ADAMTSL4_uc009wlw.2_Missense_Mutation_p.G790R|ADAMTSL4_uc010pcg.1_Missense_Mutation_p.G728R|ADAMTSL4_uc009wlx.2_5'UTR	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	thrombospondin repeat containing 1 isoform 1	767	TSP type-1 2.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			ovary(1)|skin(1)	2	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GGAGCGCTGTGGACATCTCCC	0.677													48	76					0	0	0.003610	0	0
ANXA9	8416	broad.mit.edu	37	1	150956832	150956832	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:150956832G>A	uc001ewa.2	+	6	813	c.343G>A	c.(343-345)GCC>ACC	p.A115T		NM_003568	NP_003559	O76027	ANXA9_HUMAN	annexin A9	115	Annexin 2.				cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity				0	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|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)			GCAGCCCACAGCCCAGTTTGA	0.557													21	60					0	0	0.001882	0	0
LINGO4	339398	broad.mit.edu	37	1	151774361	151774361	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:151774361G>A	uc001ezf.1	-	2	1010	c.820C>T	c.(820-822)CAC>TAC	p.H274Y		NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	274	Extracellular (Potential).|LRR 8.					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)			AAGCTGAGGTGGTACAGTGCT	0.627													12	35					0	0	0.001368	0	0
RORC	6097	broad.mit.edu	37	1	151804237	151804237	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:151804237C>T	uc001ezh.2	-	1	112	c.4G>A	c.(4-6)GAC>AAC	p.D2N	RORC_uc010pdo.1_5'UTR|RORC_uc010pdp.1_Missense_Mutation_p.D2N	NM_005060	NP_005051	P51449	RORG_HUMAN	RAR-related orphan receptor C isoform a	2	Modulating (Potential).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|skin(1)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGGGCCCTGTCCATGGGGCAG	0.697													24	54					0	0	0.006320	0	0
TCHH	7062	broad.mit.edu	37	1	152081742	152081742	+	Silent	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:152081742T>C	uc001ezp.2	-	2	3951	c.3951A>G	c.(3949-3951)GAA>GAG	p.E1317E	TCHH_uc009wne.1_Silent_p.E1317E	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	1317	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)			GCAACTGCTTTTCCTCTTGGG	0.552													62	110					0	0	0.003610	0	0
RPTN	126638	broad.mit.edu	37	1	152128337	152128337	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:152128337G>A	uc001ezs.1	-	3	1303	c.1238C>T	c.(1237-1239)TCC>TTC	p.S413F		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	repetin	413	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding				0						ACTGTAGTGGGAACTCTGGCC	0.522													194	329					0	0	0.003610	0	0
RPTN	126638	broad.mit.edu	37	1	152128862	152128862	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:152128862G>A	uc001ezs.1	-	3	778	c.713C>T	c.(712-714)TCT>TTT	p.S238F		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	repetin	238	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding				0						ACCATAATGAGAATCCTGAAT	0.403													71	114					0	0	0.003610	0	0
FLG	2312	broad.mit.edu	37	1	152277329	152277329	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:152277329C>T	uc001ezu.1	-	3	10069	c.10033G>A	c.(10033-10035)GGA>AGA	p.G3345R		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3345	Filaggrin 20.|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)			TCTGAATGTCCCTCACTATCA	0.587									Ichthyosis				66	254					0	0	0.003610	0	0
FLG	2312	broad.mit.edu	37	1	152277770	152277770	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:152277770C>T	uc001ezu.1	-	3	9628	c.9592G>A	c.(9592-9594)GTC>ATC	p.V3198I		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3198	Filaggrin 19.|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)			TGTCCCTGGACTGCCTGTGAG	0.547									Ichthyosis				36	107					0	0	0.007835	0	0
FLG	2312	broad.mit.edu	37	1	152283876	152283876	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:152283876C>T	uc001ezu.1	-	3	3522	c.3486G>A	c.(3484-3486)CAG>CAA	p.Q1162Q	uc001ezv.2_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1162	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)			GAATGGTGTCCTGACCCTCTT	0.607									Ichthyosis				111	201					0	0	0.003610	0	0
FLG	2312	broad.mit.edu	37	1	152285642	152285642	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:152285642C>T	uc001ezu.1	-	3	1756	c.1720G>A	c.(1720-1722)GAG>AAG	p.E574K	uc001ezv.2_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	574	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)			GATTGTTCCTCATTTCGTGTT	0.557									Ichthyosis				65	214					0	0	0.003610	0	0
FLG2	388698	broad.mit.edu	37	1	152326459	152326459	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:152326459C>T	uc001ezw.3	-	3	3876	c.3803G>A	c.(3802-3804)CGA>CAA	p.R1268Q	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	1268	Ser-rich.						calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTAGATCTTCGTCTTCTAGT	0.458													56	109					0	0	0.003610	0	0
IVL	3713	broad.mit.edu	37	1	152882375	152882375	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:152882375G>A	uc001fau.2	+	2	148	c.102G>A	c.(100-102)ATG>ATA	p.M34I		NM_005547	NP_005538	P07476	INVO_HUMAN	involucrin	34					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			ovary(3)	3	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGAGCAAATGAAACAGCCAA	0.557													15	43					0	0	0.003163	0	0
SPRR3	6707	broad.mit.edu	37	1	152975848	152975848	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:152975848C>T	uc001fax.3	+	3	502	c.352C>T	c.(352-354)CCT>TCT	p.P118S	SPRR3_uc001faz.3_Missense_Mutation_p.P118S|SPRR3_uc001fay.2_Missense_Mutation_p.P110S	NM_005416	NP_005407	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	118	10.|14 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity			skin(1)	1	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CATCAAGGTCCCTGACCAAGG	0.557													11	28					0	0	0.000978	0	0
SPRR3	6707	broad.mit.edu	37	1	152975872	152975872	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:152975872C>T	uc001fax.3	+	3	526	c.376C>T	c.(376-378)CCT>TCT	p.P126S	SPRR3_uc001faz.3_Missense_Mutation_p.P126S|SPRR3_uc001fay.2_Missense_Mutation_p.P118S	NM_005416	NP_005407	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	126	11.|14 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity			skin(1)	1	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CATCAAGTTTCCTGAGCCAGG	0.552													13	25					0	0	0.002450	0	0
PGLYRP3	114771	broad.mit.edu	37	1	153271646	153271646	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:153271646G>A	uc001fbn.1	-	6	843	c.790C>T	c.(790-792)CAC>TAC	p.H264Y		NM_052891	NP_443123	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3 precursor	264	Interaction with murein.				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			ovary(2)|pancreas(1)|skin(1)	4	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCATAAGTGTGAGAGCCTTGG	0.522													6	24					0	0	0.001984	0	0
S100A8	6279	broad.mit.edu	37	1	153362584	153362584	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:153362584C>T	uc001fbs.2	-	3	332	c.277G>A	c.(277-279)GAG>AAG	p.E93K		NM_002964	NP_002955	P05109	S10A8_HUMAN	S100 calcium-binding protein A8	93				VAAHKKSHEESHKE -> WQPTKKAMKKATKSS (in Ref. 1; CAA68390).	chemotaxis	cytoplasm|cytoskeleton|plasma membrane	calcium ion binding|protein binding				0	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)			CTCAGCTACTCTTTGTGGCTT	0.473													25	77					0	0	0.005443	0	0
NUP210L	91181	broad.mit.edu	37	1	154042812	154042812	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:154042812C>T	uc001fdw.2	-	17	2563	c.2491G>A	c.(2491-2493)GAA>AAA	p.E831K	NUP210L_uc009woq.2_Intron|NUP210L_uc010peh.1_Missense_Mutation_p.E831K	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like isoform 1	831						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)			TTATAATCTTCGAAATGGGCT	0.378													34	113					0	0	0.005524	0	0
ATP8B2	57198	broad.mit.edu	37	1	154309994	154309994	+	Silent	SNP	C	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:154309994C>A	uc001fey.1	+	11	1254	c.1065C>A	c.(1063-1065)ACC>ACA	p.T355T	ATP8B2_uc001few.2_Silent_p.T336T|ATP8B2_uc001fex.2_Silent_p.T369T	NM_001005855	NP_001005855	P98198	AT8B2_HUMAN	ATPase, class I, type 8B, member 2 isoform b	355	Helical; (Potential).				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(1)|skin(1)	2	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCCTCAACACCGTTGTGCCCA	0.522													6	213					0.000274275	0.000354431	0.004482	1	0
THBS3	7059	broad.mit.edu	37	1	155172102	155172102	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:155172102C>T	uc001fix.2	-	9	1071	c.1048G>A	c.(1048-1050)GGC>AGC	p.G350S	RAG1AP1_uc010pey.1_Intron|THBS3_uc009wqi.2_Missense_Mutation_p.G341S|THBS3_uc001fiz.2_Missense_Mutation_p.G350S|THBS3_uc001fiy.2_5'UTR|THBS3_uc010pfu.1_Missense_Mutation_p.G230S|THBS3_uc010pfv.1_RNA|THBS3_uc001fja.2_RNA	NM_007112	NP_009043	P49746	TSP3_HUMAN	thrombospondin 3 precursor	350	EGF-like 2; calcium-binding (Potential).				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(3)|ovary(2)	5	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		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)			ACCTGTGTGCCCTTGTACCCT	0.607													17	44					0	0	0.007413	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155935494	155935494	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:155935494G>A	uc001fmt.2	-	5	516	c.398C>T	c.(397-399)TCC>TTC	p.S133F	ARHGEF2_uc001fmr.2_Missense_Mutation_p.S106F|ARHGEF2_uc001fms.2_Missense_Mutation_p.S133F|ARHGEF2_uc001fmu.2_Missense_Mutation_p.S178F|ARHGEF2_uc010pgt.1_Missense_Mutation_p.S106F|ARHGEF2_uc010pgu.1_Missense_Mutation_p.S178F	NM_001162383	NP_001155855	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor 2	133					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)					GCCCAGGAGGGACTGCCGGAA	0.617													9	22					0	0	0.004482	0	0
MEF2D	4209	broad.mit.edu	37	1	156437973	156437973	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:156437973G>A	uc001fpc.2	-	11	1756	c.1366C>T	c.(1366-1368)CCA>TCA	p.P456S	MEF2D_uc001fpb.2_Missense_Mutation_p.P449S|MEF2D_uc001fpd.2_Missense_Mutation_p.P449S|MEF2D_uc001fpe.1_Missense_Mutation_p.P456S|MEF2D_uc009wsa.2_RNA	NM_005920	NP_005911	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	456	Poly-Pro.				apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			ovary(1)	1	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AACACAGCTGGAGGGGGAGGC	0.682													12	39					0	0	0.001368	0	0
PEAR1	375033	broad.mit.edu	37	1	156883804	156883804	+	Silent	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:156883804T>C	uc001fqj.1	+	22	2990	c.2874T>C	c.(2872-2874)CCT>CCC	p.P958P	PEAR1_uc001fqk.1_Silent_p.P583P	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	958	Pro-rich.					integral to membrane				ovary(2)|central_nervous_system(1)	3	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCAGGCAGCCTCCTCAGTTCT	0.672													2	5					0	0	0.004672	0	0
FCRL5	83416	broad.mit.edu	37	1	157514284	157514284	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:157514284C>T	uc001fqu.2	-	5	770	c.612G>A	c.(610-612)GGG>GGA	p.G204G	FCRL5_uc009wsm.2_Silent_p.G204G|FCRL5_uc010phv.1_Silent_p.G204G|FCRL5_uc010phw.1_Silent_p.G119G|FCRL5_uc001fqv.1_Silent_p.G204G|FCRL5_uc010phx.1_5'UTR	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	204	Extracellular (Potential).|Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(2)|central_nervous_system(1)	6	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TCACTGGGTTCCCGCTGATGG	0.562													23	76					0	0	0.003954	0	0
FCRL3	115352	broad.mit.edu	37	1	157650795	157650795	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:157650795C>T	uc001frb.2	-	12	2225	c.1933G>A	c.(1933-1935)GAG>AAG	p.E645K	FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Missense_Mutation_p.E645K|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_Missense_Mutation_p.E371K|FCRL3_uc001frc.1_Missense_Mutation_p.E645K	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Fc receptor-like 3 precursor	645	Cytoplasmic (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(1)	4	all_hematologic(112;0.0378)					GGCTCCAGCTCCATTGGGGCT	0.582													22	25					0	0	0.002780	0	0
FCRL3	115352	broad.mit.edu	37	1	157668383	157668383	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:157668383G>A	uc001frb.2	-	4	381	c.89C>T	c.(88-90)CCA>CTA	p.P30L	FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Missense_Mutation_p.P30L|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_5'Flank|FCRL3_uc001frc.1_Missense_Mutation_p.P30L	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Fc receptor-like 3 precursor	30	Ig-like C2-type 1.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(1)	4	all_hematologic(112;0.0378)					TGTGGACCATGGAGGATTGAG	0.502													16	44					0	0	0.004990	0	0
CD5L	922	broad.mit.edu	37	1	157803289	157803289	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:157803289C>T	uc001frk.3	-	5	875	c.732G>A	c.(730-732)TTG>TTA	p.L244L		NM_005894	NP_005885	O43866	CD5L_HUMAN	CD5 molecule-like precursor	244	SRCR 3.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			ovary(1)	1	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CTACTAGTCTCAAGTCAAAGG	0.478													23	62					0	0	0.002780	0	0
CD1C	911	broad.mit.edu	37	1	158262052	158262052	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:158262052G>A	uc001fru.2	+	3	799	c.507G>A	c.(505-507)CAG>CAA	p.Q169Q	CD1C_uc001frv.2_5'UTR	NM_001765	NP_001756	P29017	CD1C_HUMAN	CD1C antigen precursor	169	Extracellular (Potential).				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			ovary(2)|skin(1)|pancreas(1)	4	all_hematologic(112;0.0378)					TCAATCATCAGTATGAAGGCG	0.458													85	192					0	0	0.003610	0	0
CD1E	913	broad.mit.edu	37	1	158325175	158325175	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:158325175C>T	uc001fse.2	+	3	680	c.441C>T	c.(439-441)TTC>TTT	p.F147F	CD1E_uc010pid.1_Silent_p.F145F|CD1E_uc010pie.1_Silent_p.F48F|CD1E_uc010pif.1_Intron|CD1E_uc001fsd.2_Silent_p.F147F|CD1E_uc001fsk.2_Intron|CD1E_uc001fsj.2_Intron|CD1E_uc001fsc.2_Intron|CD1E_uc010pig.1_Intron|CD1E_uc001fsa.2_Intron|CD1E_uc001fsf.2_Silent_p.F147F|CD1E_uc001fry.2_Silent_p.F147F|CD1E_uc001fsg.2_Intron|CD1E_uc001fsh.2_Intron|CD1E_uc001fsi.2_Silent_p.F147F|CD1E_uc009wsv.2_Silent_p.F48F|CD1E_uc001frz.2_Intron|CD1E_uc009wsw.2_5'Flank	NM_030893	NP_112155	P15812	CD1E_HUMAN	CD1E antigen isoform a precursor	147					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				skin(3)	3	all_hematologic(112;0.0378)					GGTCAGATTTCCTGAGTTTCC	0.468													22	82					0	0	0.001882	0	0
SPTA1	6708	broad.mit.edu	37	1	158612323	158612323	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:158612323G>A	uc001fst.1	-	33	4814	c.4615C>T	c.(4615-4617)CTG>TTG	p.L1539L		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1539	Spectrin 15.				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)					TGGTGTTTCAGGTATTTCCTC	0.398													26	45					0	0	0.007291	0	0
CADM3	57863	broad.mit.edu	37	1	159166791	159166791	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:159166791G>A	uc001ftl.2	+	7	1035	c.893G>A	c.(892-894)GGC>GAC	p.G298D	CADM3_uc009wsy.1_Missense_Mutation_p.G252D|CADM3_uc001ftk.2_Missense_Mutation_p.G332D|uc001ftm.1_RNA	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	cell adhesion molecule 3 isoform 2	298	Ig-like C2-type 2.|Extracellular (Potential).				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			ovary(2)	2	all_hematologic(112;0.0429)					GGCACCTACGGCTGCACAGCC	0.537													17	36					0	0	0.007413	0	0
FCER1A	2205	broad.mit.edu	37	1	159273745	159273745	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:159273745A>G	uc001ftq.2	+	4	203	c.104A>G	c.(103-105)AAC>AGC	p.N35S		NM_002001	NP_001992	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor	35	Extracellular (Potential).|Ig-like 1.					integral to plasma membrane				lung(2)|skin(2)|prostate(1)	5	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	GTCTCCTTGAACCCTCCATGG	0.363													12	30					0	0	0.001855	0	0
CCDC19	25790	broad.mit.edu	37	1	159842754	159842754	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:159842754C>T	uc001fui.2	-	11	1575	c.1557G>A	c.(1555-1557)AGG>AGA	p.R519R	CCDC19_uc009wtb.2_RNA|CCDC19_uc001fuj.2_RNA|CCDC19_uc001fuk.2_Silent_p.R434R|CCDC19_uc001ful.2_Silent_p.R434R	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	nasopharyngeal epithelium specific protein 1	519	Potential.					mitochondrion|soluble fraction				ovary(1)	1	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			CAAGCTTTTTCCTCTTGATCT	0.562													24	33					0	0	0.002780	0	0
IGSF9	57549	broad.mit.edu	37	1	159907537	159907537	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:159907537C>T	uc001fur.2	-	4	537	c.339G>A	c.(337-339)CTG>CTA	p.L113L	IGSF9_uc001fuq.2_Silent_p.L113L	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9 isoform a	113	Ig-like 1.|Extracellular (Potential).					cell junction|integral to membrane|synapse				ovary(2)|central_nervous_system(2)|large_intestine(1)	5	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			TGTGCTGGTCCAGGAAGAACA	0.607													20	40					0	0	0.001523	0	0
ATP1A2	477	broad.mit.edu	37	1	160093166	160093166	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:160093166G>A	uc001fvc.2	+	4	473	c.341G>A	c.(340-342)GGC>GAC	p.G114D	ATP1A2_uc001fvb.2_Missense_Mutation_p.G114D|ATP1A2_uc010piz.1_5'Flank	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Na+/K+ -ATPase alpha 2 subunit proprotein	114	Extracellular (Potential).				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			central_nervous_system(3)|ovary(2)|skin(2)	7	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CTGGCCTACGGCATCCAGGCT	0.612													39	82					0	0	0.002852	0	0
ATP1A4	480	broad.mit.edu	37	1	160156065	160156065	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:160156065G>A	uc001fve.3	+	21	3449	c.2970_splice	c.e21-1	p.K990_splice	ATP1A4_uc001fvf.3_Splice_Site|ATP1A4_uc001fvg.2_Splice_Site_p.K493_splice|ATP1A4_uc001fvh.2_Splice_Site_p.K126_splice	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Na+/K+ -ATPase alpha 4 subunit isoform 1						ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(2)|skin(2)	4	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCTCTCTACAGGATAACCTGG	0.483													67	157					0	0	0.003610	0	0
SLAMF6	114836	broad.mit.edu	37	1	160461004	160461004	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:160461004C>T	uc001fwe.1	-	3	617	c.557G>A	c.(556-558)AGG>AAG	p.R186K	SLAMF6_uc001fwd.1_Missense_Mutation_p.R186K|SLAMF6_uc010pjh.1_Missense_Mutation_p.R137K|SLAMF6_uc010pji.1_Missense_Mutation_p.R75K|SLAMF6_uc010pjj.1_Missense_Mutation_p.R75K|SLAMF6_uc009wtm.1_Missense_Mutation_p.R137K	NM_052931	NP_443163	Q96DU3	SLAF6_HUMAN	activating NK receptor precursor	186	Extracellular (Potential).|Ig-like.					integral to membrane|plasma membrane	receptor activity			ovary(1)|skin(1)	2	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			ACTGGAAATCCTGGGGTCCCA	0.498													35	55					0	0	0.004878	0	0
CD84	8832	broad.mit.edu	37	1	160523163	160523163	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:160523163C>T	uc001fwh.3	-	4	789	c.765G>A	c.(763-765)AGG>AGA	p.R255R	CD84_uc001fwf.3_Intron|CD84_uc001fwg.3_Intron|CD84_uc009wtn.2_Intron|CD84_uc001fwi.3_Intron|CD84_uc001fwj.2_Silent_p.R255R	NM_003874	NP_003865	Q9UIB8	SLAF5_HUMAN	CD84 molecule	255	Cytoplasmic (Potential).				blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CTGGGAAAATCCTACCTTGTC	0.458													5	41					0	0	0.001168	0	0
CD48	962	broad.mit.edu	37	1	160648891	160648891	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:160648891C>T	uc001fwn.2	-	4	715	c.683G>A	c.(682-684)AGT>AAT	p.S228N		NM_001778	NP_001769	P09326	CD48_HUMAN	CD48 molecule precursor	228					blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding				0	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CACTAGCCAACTTGCAATCCA	0.453													31	59					0	0	0.003271	0	0
LY9	4063	broad.mit.edu	37	1	160784448	160784448	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:160784448G>A	uc001fwu.2	+	4	1019	c.969G>A	c.(967-969)AAG>AAA	p.K323K	LY9_uc010pjs.1_Silent_p.K323K|LY9_uc001fwv.2_Silent_p.K323K|LY9_uc001fww.2_Silent_p.K323K|LY9_uc001fwx.2_Silent_p.K323K|LY9_uc001fwy.1_Silent_p.K225K|LY9_uc001fwz.2_5'UTR	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9 isoform a	323	Extracellular (Potential).|Ig-like V-type 2.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				ovary(1)	1	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GCTCCCTGAAGATCAGCCAGC	0.562													7	28					0	0	0.003080	0	0
ITLN1	55600	broad.mit.edu	37	1	160850994	160850994	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:160850994C>T	uc001fxc.2	-	5	630	c.514G>A	c.(514-516)GAC>AAC	p.D172N		NM_017625	NP_060095	Q8WWA0	ITLN1_HUMAN	intelectin precursor	172	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)	7	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			AAGCCAGTGTCCGTGCGGTAC	0.562													20	69					0	0	0.002299	0	0
USF1	7391	broad.mit.edu	37	1	161012647	161012647	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:161012647C>T	uc001fxi.2	-	3	229	c.34G>A	c.(34-36)GAG>AAG	p.E12K	USF1_uc001fxj.2_5'UTR	NM_007122	NP_009053	P22415	USF1_HUMAN	upstream stimulatory factor 1 isoform 1	12					cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to hypoxia|response to UV	transcription factor complex	bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			ACTGTCCCCTCTTCCGTTTCA	0.488													41	73					0	0	0.003214	0	0
DUSP12	11266	broad.mit.edu	37	1	161722226	161722226	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:161722226G>A	uc001gbo.2	+	4	657	c.646G>A	c.(646-648)GAG>AAG	p.E216K	DUSP12_uc001gbp.2_Missense_Mutation_p.E86K	NM_007240	NP_009171	Q9UNI6	DUS12_HUMAN	dual specificity phosphatase 12	216					positive regulation of glucokinase activity	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|zinc ion binding			breast(1)	1	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			ATTGAAAGATGAGGTTCTCTA	0.308													68	164					0	0	0.003610	0	0
PBX1	5087	broad.mit.edu	37	1	164761949	164761949	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:164761949C>T	uc001gct.2	+	3	742	c.484C>T	c.(484-486)CAT>TAT	p.H162Y	PBX1_uc010pku.1_Missense_Mutation_p.H162Y|PBX1_uc010pkv.1_Missense_Mutation_p.H79Y|PBX1_uc001gcs.2_Missense_Mutation_p.H162Y|PBX1_uc010pkw.1_Missense_Mutation_p.H52Y	NM_002585	NP_002576	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	162					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						ACAAATCTACCATACGGAGCT	0.488			T	TCF3|EWSR1	pre B-ALL|myoepithelioma								10	30					0	0	0.001368	0	0
MAEL	84944	broad.mit.edu	37	1	166974571	166974571	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:166974571C>T	uc001gdy.1	+	8	853	c.782C>T	c.(781-783)CCC>CTC	p.P261L	MAEL_uc001gdz.1_Missense_Mutation_p.P230L|MAEL_uc009wvf.1_RNA	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN	maelstrom homolog	261					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			skin(1)	1						CTCAAGGAGCCCTCTAAGACT	0.398													25	38					0	0	0.004656	0	0
CREG1	8804	broad.mit.edu	37	1	167515373	167515373	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:167515373G>A	uc001gel.2	-	3	702	c.624C>T	c.(622-624)ATC>ATT	p.I208I		NM_003851	NP_003842	O75629	CREG1_HUMAN	cellular repressor of E1A-stimulated genes	208					cell proliferation|multicellular organismal development|regulation of growth|regulation of transcription from RNA polymerase II promoter	extracellular region	FMN binding|transcription corepressor activity				0						CTGGTGTCACGATTTTTGGTC	0.428													11	19					0	0	0.000978	0	0
F5	2153	broad.mit.edu	37	1	169510333	169510333	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:169510333A>G	uc001ggg.1	-	13	4140	c.3995T>C	c.(3994-3996)CTA>CCA	p.L1332P		NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	1332	2-17.|35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GCTGAAGTCTAGAGAAAGGGT	0.527													4	241					0	0	0.000602	0	0
F5	2153	broad.mit.edu	37	1	169525915	169525915	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:169525915G>A	uc001ggg.1	-	6	1066	c.921C>T	c.(919-921)ATC>ATT	p.I307I	F5_uc010plr.1_RNA	NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	307	F5/8 type A 1.|Plastocyanin-like 2.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GAGAAGATATGATCCACTTTC	0.483													20	22					0	0	0.008871	0	0
F5	2153	broad.mit.edu	37	1	169541483	169541483	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:169541483T>A	uc001ggg.1	-	3	494	c.349A>T	c.(349-351)ATT>TTT	p.I117F	F5_uc010plr.1_RNA	NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	117	F5/8 type A 1.|Plastocyanin-like 1.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CTGTACCTAATTCCTTGAGGA	0.333													14	36					0	0	0.003163	0	0
FMO3	2328	broad.mit.edu	37	1	171083441	171083441	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:171083441C>T	uc001ghi.2	+	7	1233	c.1122C>T	c.(1120-1122)TCC>TCT	p.S374S	FMO3_uc001ghh.2_Silent_p.S374S|FMO3_uc010pmb.1_Silent_p.S354S|FMO3_uc010pmc.1_Silent_p.S311S	NM_001002294	NP_001002294	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	374					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTGTCCAGTCCCTTGGGGCTG	0.438													18	29					0	0	0.002299	0	0
FMO1	2326	broad.mit.edu	37	1	171254561	171254561	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:171254561G>A	uc009wvz.2	+	9	1613	c.1477G>A	c.(1477-1479)GAC>AAC	p.D493N	FMO1_uc010pme.1_Missense_Mutation_p.D430N|FMO1_uc001ghl.2_Missense_Mutation_p.D493N|FMO1_uc001ghm.2_Missense_Mutation_p.D493N|FMO1_uc001ghn.2_3'UTR	NM_002021	NP_002012	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	493					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GACCCAGTGGGACCGAACATT	0.493													16	38					0	0	0.004990	0	0
MYOC	4653	broad.mit.edu	37	1	171605338	171605338	+	Silent	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:171605338T>C	uc001ghu.2	-	3	1264	c.1242A>G	c.(1240-1242)GAA>GAG	p.E414E	MYOC_uc010pmk.1_Silent_p.E356E	NM_000261	NP_000252	Q99972	MYOC_HUMAN	myocilin precursor	414	Olfactomedin-like.		E -> K.		anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			lung(1)	1	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CCCAGGTTTGTTCGAGTTCCA	0.522													45	63					0	0	0.003610	0	0
MYOC	4653	broad.mit.edu	37	1	171605844	171605844	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:171605844C>T	uc001ghu.2	-	3	758	c.736G>A	c.(736-738)GGA>AGA	p.G246R	MYOC_uc010pmk.1_Missense_Mutation_p.G188R	NM_000261	NP_000252	Q99972	MYOC_HUMAN	myocilin precursor	246	Olfactomedin-like.		G -> R (in GLC1A).		anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			lung(1)	1	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					ACTAGTTCTCCACATCCTGGT	0.473													29	46					0	0	0.008361	0	0
FASLG	356	broad.mit.edu	37	1	172634974	172634974	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:172634974C>T	uc001gis.2	+	4	821	c.664C>T	c.(664-666)CTG>TTG	p.L222L	FASLG_uc001git.2_3'UTR	NM_000639	NP_000630	P48023	TNFL6_HUMAN	fas ligand	222	Extracellular (Potential).				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			lung(2)|breast(1)	3						TCCCCAGGATCTGGTGATGAT	0.512													24	48					0	0	0.007291	0	0
TNN	63923	broad.mit.edu	37	1	175097181	175097181	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:175097181G>A	uc001gkl.1	+	14	3172	c.3059G>A	c.(3058-3060)GGA>GAA	p.G1020E		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	1020	Fibronectin type-III 9.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		ATGCAGCTGGGACGGGAAGAC	0.547													18	29					0	0	0.007413	0	0
FAM5B	57795	broad.mit.edu	37	1	177199095	177199095	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:177199095C>T	uc001glf.2	+	2	395	c.83C>T	c.(82-84)CCT>CTT	p.P28L		NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	family with sequence similarity 5, member B	28						extracellular region				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						CTGGGCCTGCCTGGCTGGGTG	0.677													7	19					0	0	0.003080	0	0
FAM5B	57795	broad.mit.edu	37	1	177247850	177247851	+	Missense_Mutation	DNP	GA	AG	AG			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:177247850_177247851GA>AG	uc001glf.2	+	7	1476_1477	c.1164_1165GA>AG	c.(1162-1167)CGGATC>CGAGTC	p.I389V	FAM5B_uc010pna.1_Missense_Mutation_p.I139V|FAM5B_uc001glg.2_Missense_Mutation_p.I284V	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	family with sequence similarity 5, member B	389						extracellular region				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						AGACCCATCGGATCCTACGCCG	0.614													10	63					0	0	0.004672	0	0
NPHS2	7827	broad.mit.edu	37	1	179526183	179526183	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:179526183C>T	uc001gmq.3	-	5	802	c.717G>A	c.(715-717)AAG>AAA	p.K239K	NPHS2_uc009wxi.2_Intron	NM_014625	NP_055440	Q9NP85	PODO_HUMAN	podocin	239	Cytoplasmic (Potential).				excretion	integral to plasma membrane	protein binding				0						GGGCGATGCTCTTCCTCTCTA	0.373													11	27					0	0	0.000978	0	0
CEP350	9857	broad.mit.edu	37	1	180061872	180061872	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:180061872C>T	uc001gnt.2	+	34	7015	c.6632C>T	c.(6631-6633)TCA>TTA	p.S2211L	CEP350_uc009wxl.2_Missense_Mutation_p.S2210L|CEP350_uc001gnv.2_Missense_Mutation_p.S346L|CEP350_uc001gnw.1_5'UTR|CEP350_uc001gnx.1_5'UTR	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	2211						centrosome|nucleus|spindle				ovary(4)	4						GTTCTCAGATCATCAAGGAAA	0.368													4	16					0	0	0.000248	0	0
LHX4	89884	broad.mit.edu	37	1	180243580	180243580	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:180243580G>A	uc001goe.1	+	6	1262	c.1039G>A	c.(1039-1041)GGA>AGA	p.G347R	uc001gof.1_Intron	NM_033343	NP_203129	Q969G2	LHX4_HUMAN	LIM homeobox protein 4	347						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						TGCAGGGCAGGGAGTAAGCCA	0.572													25	134					0	0	0.003954	0	0
MR1	3140	broad.mit.edu	37	1	181021424	181021424	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:181021424C>T	uc001goq.1	+	4	663	c.658C>T	c.(658-660)CTC>TTC	p.L220F	MR1_uc001gor.1_Missense_Mutation_p.L175F|MR1_uc001gos.1_Intron|MR1_uc010pns.1_Intron	NM_001531	NP_001522	Q95460	HMR1_HUMAN	major histocompatibility complex, class	220	Extracellular (Potential).|Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|immune response	endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex	MHC class I receptor activity			skin(1)	1						GGTTACAGCTCTCTTCTGCAA	0.413													12	45					0	0	0.000978	0	0
CACNA1E	777	broad.mit.edu	37	1	181727961	181727961	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:181727961T>A	uc001gow.2	+	32	4727	c.4562T>A	c.(4561-4563)TTT>TAT	p.F1521Y	CACNA1E_uc009wxs.2_Missense_Mutation_p.F1409Y|CACNA1E_uc001gox.1_Missense_Mutation_p.F747Y|CACNA1E_uc009wxt.2_Missense_Mutation_p.F747Y	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	1521	Helical; Name=S2 of repeat IV.|IV.				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						ACCATGGTGTTTTCCCTGGAA	0.473													25	69					0	0	0.008361	0	0
ZNF648	127665	broad.mit.edu	37	1	182027103	182027103	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:182027103G>A	uc001goz.2	-	2	251	c.43C>T	c.(43-45)CCT>TCT	p.P15S		NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	zinc finger protein 648	15					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CTGCTGAGAGGAGACGCCTCT	0.552													16	43					0	0	0.004007	0	0
GLUL	2752	broad.mit.edu	37	1	182353819	182353819	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:182353819G>A	uc001gpa.1	-	7	1055	c.843C>T	c.(841-843)CAC>CAT	p.H281H	GLUL_uc010pnt.1_Silent_p.H68H|GLUL_uc001gpb.1_Silent_p.H281H|GLUL_uc001gpc.1_Silent_p.H281H|GLUL_uc001gpd.1_Silent_p.H281H	NM_001033056	NP_001028228	P15104	GLNA_HUMAN	glutamine synthetase	281					cell proliferation|glutamine biosynthetic process|neurotransmitter uptake	cytosol|Golgi apparatus|mitochondrion	ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding				0					Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134)	TGTGGTACTGGTGCCGCTTGC	0.498													49	68					0	0	0.003610	0	0
HMCN1	83872	broad.mit.edu	37	1	186037103	186037103	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:186037103C>T	uc001grq.1	+	50	8072	c.7843C>T	c.(7843-7845)CCT>TCT	p.P2615S		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	2615	Ig-like C2-type 24.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						GGATGGCACTCCTTTAGAATC	0.413													25	78					0	0	0.004656	0	0
HMCN1	83872	broad.mit.edu	37	1	186086672	186086672	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:186086672G>A	uc001grq.1	+	77	11994	c.11765G>A	c.(11764-11766)GGA>GAA	p.G3922E		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	3922	Ig-like C2-type 38.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						ACTGCTTCGGGAGTTCCATTT	0.453													26	44					0	0	0.003330	0	0
HMCN1	83872	broad.mit.edu	37	1	186113689	186113689	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:186113689C>T	uc001grq.1	+	91	14349	c.14120C>T	c.(14119-14121)GCC>GTC	p.A4707V	HMCN1_uc001grs.1_Missense_Mutation_p.A276V	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4707	TSP type-1 4.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						GCGACTTGGGCCAGTTGGAGT	0.512													51	101					0	0	0.003610	0	0
TPR	7175	broad.mit.edu	37	1	186292853	186292853	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:186292853G>A	uc001grv.2	-	43	6559	c.6262C>T	c.(6262-6264)CAT>TAT	p.H2088Y		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	2088					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)		GGTGGGGCATGAATGGTCAGT	0.483			T	NTRK1	papillary thyroid								49	111					0	0	0.003610	0	0
RGS21	431704	broad.mit.edu	37	1	192335101	192335101	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:192335101A>T	uc001gsh.2	+	5	480	c.306A>T	c.(304-306)GAA>GAT	p.E102D		NM_001039152	NP_001034241	Q2M5E4	RGS21_HUMAN	regulator of G-protein signaling 21	102	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(1)|skin(1)	2						ATATTGCTGAACCAACACTCA	0.348													32	74					0	0	0.005524	0	0
CFHR4	10877	broad.mit.edu	37	1	196883689	196883689	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:196883689C>T	uc001gto.2	+	4	573	c.504C>T	c.(502-504)CTC>CTT	p.L168L	CFHR4_uc009wyy.2_Silent_p.L414L|CFHR4_uc001gtp.2_Silent_p.L415L	NM_006684	NP_006675	Q92496	FHR4_HUMAN	complement factor H-related 4 precursor	168	Sushi 3.					extracellular region	lipid transporter activity			ovary(1)|pancreas(1)|skin(1)	3						GGTTTAAGCTCCATGACACAT	0.403													13	42					0	0	0.001855	0	0
LHX9	56956	broad.mit.edu	37	1	197896838	197896838	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:197896838C>T	uc001guk.1	+	4	1288	c.851C>T	c.(850-852)TCC>TTC	p.S284F	LHX9_uc001gui.1_Missense_Mutation_p.S275F|LHX9_uc001guj.1_Missense_Mutation_p.S290F	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN	LIM homeobox 9 isoform 1	284	Homeobox.				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						ACCATGAAATCCTACTTTGCC	0.532													21	61					0	0	0.001882	0	0
PTPRC	5788	broad.mit.edu	37	1	198676022	198676022	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:198676022C>T	uc001gur.1	+	9	1019	c.839C>T	c.(838-840)TCC>TTC	p.S280F	PTPRC_uc001gus.1_Missense_Mutation_p.S232F|PTPRC_uc001gut.1_Missense_Mutation_p.S119F|PTPRC_uc009wzf.1_Missense_Mutation_p.S168F|PTPRC_uc010ppg.1_Missense_Mutation_p.S216F	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	280	Extracellular (Potential).				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						GCGTCTGTTTCCATATCTCAT	0.294													57	91					0	0	0.003610	0	0
PTPRC	5788	broad.mit.edu	37	1	198704324	198704324	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:198704324G>A	uc001gur.1	+	23	2520	c.2340G>A	c.(2338-2340)AAG>AAA	p.K780K	PTPRC_uc001gus.1_Silent_p.K732K|PTPRC_uc001gut.1_Silent_p.K619K|PTPRC_uc010ppg.1_Silent_p.K716K	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	780	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						TTGTTGTAAAGATCAACCAGC	0.308													7	40					0	0	0.004482	0	0
CACNA1S	779	broad.mit.edu	37	1	201030530	201030530	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:201030530C>T	uc001gvv.2	-	25	3347	c.3120G>A	c.(3118-3120)GAG>GAA	p.E1040E		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	1040	III.|Extracellular (Potential).|Dihydropyridine binding (By similarity).				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)|skin(1)	5					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AGATGGCCATCTCCACACGGT	0.527													25	68					0	0	0.007291	0	0
CACNA1S	779	broad.mit.edu	37	1	201061174	201061174	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:201061174C>T	uc001gvv.2	-	4	694	c.467G>A	c.(466-468)GGA>GAA	p.G156E		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	156	Extracellular (Potential).|I.				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)|skin(1)	5					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CAAGCCGGCTCCTTTGCTGCT	0.602													16	39					0	0	0.006122	0	0
TNNT2	7139	broad.mit.edu	37	1	201331124	201331124	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:201331124C>T	uc001gwf.2	-	13	696	c.627G>A	c.(625-627)CAG>CAA	p.Q209Q	TNNT2_uc009wzn.2_5'Flank|TNNT2_uc009wzo.2_5'Flank|TNNT2_uc009wzp.2_RNA|TNNT2_uc001gwg.2_Silent_p.Q199Q|TNNT2_uc001gwh.2_Silent_p.Q196Q|TNNT2_uc001gwi.2_Silent_p.Q169Q|TNNT2_uc009wzr.2_Silent_p.Q140Q	NM_000364	NP_000355	P45379	TNNT2_HUMAN	troponin T type 2, cardiac isoform 1	212					ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding				0						CCCGCTCAGTCTGCCTCTTCC	0.572											OREG0014076	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	61					0	0	0.005524	0	0
KDM5B	10765	broad.mit.edu	37	1	202705423	202705423	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:202705423G>A	uc001gyf.2	-	21	3298	c.3182C>T	c.(3181-3183)ACC>ATC	p.T1061I	KDM5B_uc009xag.2_Missense_Mutation_p.T1097I|KDM5B_uc001gyg.1_Missense_Mutation_p.T903I	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	jumonji, AT rich interactive domain 1B	1061					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(2)|breast(2)|urinary_tract(1)	5						AGCTACTAGGGTTTCCAGTCT	0.443													9	27					0	0	0.004482	0	0
KDM5B	10765	broad.mit.edu	37	1	202710703	202710703	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:202710703G>A	uc001gyf.2	-	19	2853	c.2737C>T	c.(2737-2739)CGT>TGT	p.R913C	KDM5B_uc009xag.2_Missense_Mutation_p.R949C|KDM5B_uc001gyg.1_Missense_Mutation_p.R755C	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	jumonji, AT rich interactive domain 1B	913					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(2)|breast(2)|urinary_tract(1)	5						TGTTCCAAACGGATACGCATC	0.502													14	25					0	0	0.001855	0	0
FMOD	2331	broad.mit.edu	37	1	203316946	203316946	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:203316946G>A	uc001gzr.2	-	2	589	c.453C>T	c.(451-453)TTC>TTT	p.F151F	FMOD_uc010pqi.1_RNA	NM_002023	NP_002014	Q06828	FMOD_HUMAN	fibromodulin precursor	151	LRR 2.				transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				ovary(2)|breast(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.171)			TCAGCTTGGAGAAGACCTTCC	0.597													23	62					0	0	0.002780	0	0
REN	5972	broad.mit.edu	37	1	204129794	204129794	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:204129794A>T	uc001haq.2	-	4	430	c.386T>A	c.(385-387)CTC>CAC	p.L129H		NM_000537	NP_000528	P00797	RENI_HUMAN	renin preproprotein	129					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			skin(3)|central_nervous_system(1)	4	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	AGCATCGAAGAGCTTGTGATA	0.552													32	62					0	0	0.004289	0	0
NFASC	23114	broad.mit.edu	37	1	204948605	204948605	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:204948605C>T	uc001hbj.2	+	19	2422	c.2094C>T	c.(2092-2094)TAC>TAT	p.Y698Y	NFASC_uc010pra.1_Silent_p.Y694Y|NFASC_uc001hbi.2_Silent_p.Y694Y|NFASC_uc010prb.1_Silent_p.Y709Y|NFASC_uc010prc.1_Silent_p.Y265Y|NFASC_uc001hbk.1_Silent_p.Y504Y|NFASC_uc001hbl.1_5'Flank	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	neurofascin isoform 1 precursor	698	Extracellular (Potential).|Fibronectin type-III 1.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ATGTCAACTACCAGTTCCGTG	0.597													18	79					0	0	0.008871	0	0
CNTN2	6900	broad.mit.edu	37	1	205035016	205035016	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:205035016G>A	uc001hbr.2	+	14	2064	c.1795G>A	c.(1795-1797)GAG>AAG	p.E599K	CNTN2_uc001hbq.1_Missense_Mutation_p.E490K|CNTN2_uc001hbs.2_Missense_Mutation_p.E387K	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	contactin 2 precursor	599	Ig-like C2-type 6.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			ovary(1)	1	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CGCGTCCAAGGAGGCCACAGT	0.617													11	25					0	0	0.001855	0	0
SLC26A9	115019	broad.mit.edu	37	1	205892544	205892544	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:205892544G>A	uc001hdq.2	-	15	1692	c.1578C>T	c.(1576-1578)ATC>ATT	p.I526I	SLC26A9_uc001hdo.2_Silent_p.I194I|SLC26A9_uc001hdp.2_Silent_p.I526I	NM_052934	NP_443166	Q7LBE3	S26A9_HUMAN	solute carrier family 26, member 9 isoform a	526	STAS.					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			ovary(1)|skin(1)	2	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			TAATCCCCTGGATATCCTGGG	0.488													17	52					0	0	0.004990	0	0
SLC26A9	115019	broad.mit.edu	37	1	205899084	205899084	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:205899084G>A	uc001hdq.2	-	6	767	c.653C>T	c.(652-654)TCG>TTG	p.S218L	SLC26A9_uc001hdo.2_5'Flank|SLC26A9_uc001hdp.2_Missense_Mutation_p.S218L	NM_052934	NP_443166	Q7LBE3	S26A9_HUMAN	solute carrier family 26, member 9 isoform a	218	Helical; (Potential).					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			ovary(1)|skin(1)	2	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			CTTGAGCACCGAAATCAGGAT	0.582													16	20					0	0	0.007413	0	0
RASSF5	83593	broad.mit.edu	37	1	206711525	206711525	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:206711525A>T	uc001hed.2	+	2	539	c.482A>T	c.(481-483)GAA>GTA	p.E161V	RASSF5_uc001hec.1_Missense_Mutation_p.E161V|RASSF5_uc001hee.2_Missense_Mutation_p.E161V	NM_182663	NP_872604	Q8WWW0	RASF5_HUMAN	Ras association (RalGDS/AF-6) domain family 5	161	Phorbol-ester/DAG-type.				apoptosis|intracellular signal transduction	cytoplasm|microtubule	metal ion binding|protein binding			ovary(1)	1	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			TGTCACCCAGAATGCCGCAGC	0.527													34	60					0	0	0.004878	0	0
FAIM3	9214	broad.mit.edu	37	1	207078479	207078479	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:207078479G>A	uc001hey.2	-	8	1237	c.1058C>T	c.(1057-1059)CCC>CTC	p.P353L	FAIM3_uc010prz.1_Missense_Mutation_p.P241L|FAIM3_uc010psa.1_Missense_Mutation_p.P262L|FAIM3_uc010psb.1_Missense_Mutation_p.P353L	NM_005449	NP_005440	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3 isoform a	353	Cytoplasmic (Potential).				anti-apoptosis|cellular defense response	integral to membrane				central_nervous_system(1)	1	Breast(84;0.201)					ATGGAGCCAGGGAGATTCAGA	0.517													17	29					0	0	0.006122	0	0
PIGR	5284	broad.mit.edu	37	1	207110656	207110656	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:207110656C>T	uc001hez.2	-	4	1013	c.829G>A	c.(829-831)GAA>AAA	p.E277K	PIGR_uc009xbz.2_Missense_Mutation_p.E277K	NM_002644	NP_002635	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor precursor	277	Ig-like V-type 3.|Extracellular (Potential).					extracellular region|integral to plasma membrane	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3						TCACAGTTTTCCCCACTGCTC	0.587													13	53					0	0	0.001368	0	0
CR1	1378	broad.mit.edu	37	1	207741283	207741283	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:207741283G>A	uc001hfy.2	+	17	2857	c.2717G>A	c.(2716-2718)AGA>AAA	p.R906K	CR1_uc009xcl.1_Missense_Mutation_p.R456K|CR1_uc001hfx.2_Missense_Mutation_p.R1356K|CR1_uc009xck.1_Missense_Mutation_p.R456K	NM_000573	NP_000564	P17927	CR1_HUMAN	complement receptor 1 isoform F precursor	906	Extracellular (Potential).|Sushi 14.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3						CACCCAGACAGAGGGACGAGC	0.532													35	155					0	0	0.002836	0	0
PLXNA2	5362	broad.mit.edu	37	1	208207908	208207908	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:208207908G>A	uc001hgz.2	-	27	5552	c.4794C>T	c.(4792-4794)GTC>GTT	p.V1598V		NM_025179	NP_079455	O75051	PLXA2_HUMAN	plexin A2 precursor	1598	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TCTGTTTGGGGACCAGAGCCA	0.537													17	31					0	0	0.008871	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213303012	213303012	+	Silent	SNP	G	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:213303012G>C	uc010ptr.1	+	6	774	c.615G>C	c.(613-615)GGG>GGC	p.G205G	RPS6KC1_uc001hkd.2_Silent_p.G193G|RPS6KC1_uc010pts.1_Silent_p.G24G|RPS6KC1_uc010ptt.1_Silent_p.G24G|RPS6KC1_uc010ptu.1_Silent_p.G24G|RPS6KC1_uc010ptv.1_5'UTR|RPS6KC1_uc001hke.2_Silent_p.G24G	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide	205					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)		CAGCACTAGGGGCTGTTGCTT	0.438													5	48					0	0	0.001168	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213445937	213445937	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:213445937C>T	uc010ptr.1	+	15	3320	c.3161C>T	c.(3160-3162)CCA>CTA	p.P1054L	RPS6KC1_uc001hkd.2_Missense_Mutation_p.P1042L|RPS6KC1_uc010pts.1_Missense_Mutation_p.P842L|RPS6KC1_uc010ptt.1_Missense_Mutation_p.P842L|RPS6KC1_uc010ptu.1_Missense_Mutation_p.P873L|RPS6KC1_uc010ptv.1_Missense_Mutation_p.P589L|RPS6KC1_uc001hke.2_Missense_Mutation_p.P873L	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide	1054	Protein kinase 2.				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)		AAATCTCATCCATTTTTTACC	0.443													20	60					0	0	0.001523	0	0
PROX1	5629	broad.mit.edu	37	1	214171352	214171352	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:214171352C>T	uc001hkh.2	+	2	1746	c.1474C>T	c.(1474-1476)CCA>TCA	p.P492S	PROX1_uc001hkg.1_Missense_Mutation_p.P492S	NM_002763	NP_002754	Q92786	PROX1_HUMAN	prospero homeobox 1	492					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			ovary(3)|lung(1)|central_nervous_system(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GATGGCCTATCCATTTCAGAG	0.592													22	47					0	0	0.005443	0	0
PTPN14	5784	broad.mit.edu	37	1	214557016	214557016	+	Missense_Mutation	SNP	G	A	A	rs143375730	by1000genomes	TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:214557016G>A	uc001hkk.1	-	13	2453	c.2182C>T	c.(2182-2184)CGG>TGG	p.R728W	PTPN14_uc010pty.1_Missense_Mutation_p.R629W	NM_005401	NP_005392	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type	728					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			breast(2)|ovary(1)|kidney(1)|skin(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		ATCTTCTCCCGGAGCATGGGG	0.612													16	29					0	0	0.004007	0	0
CENPF	1063	broad.mit.edu	37	1	214818204	214818205	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:214818204_214818205GG>AA	uc001hkm.2	+	13	5465_5466	c.5291_5292GG>AA	c.(5290-5292)GGG>GAA	p.G1764E		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	1860					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GATTTCCTGGGGAATCAGGAAG	0.411													12	36					0	0	0.004672	0	0
USH2A	7399	broad.mit.edu	37	1	216373101	216373101	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:216373101C>T	uc001hku.1	-	17	4066	c.3679G>A	c.(3679-3681)GGC>AGC	p.G1227S	USH2A_uc001hkv.2_Missense_Mutation_p.G1227S	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	1227	Extracellular (Potential).|Fibronectin type-III 2.				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)		TGTAAACAGCCCCCGCTAGTA	0.488										HNSCC(13;0.011)			20	34					0	0	0.008871	0	0
MIA3	375056	broad.mit.edu	37	1	222802465	222802465	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:222802465C>T	uc001hnl.2	+	4	1912	c.1903C>T	c.(1903-1905)CCA>TCA	p.P635S	MIA3_uc009xea.1_Missense_Mutation_p.P471S	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	635	Extracellular (Potential).				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(4)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(131;0.0199)		ATTCTCCTCTCCAGATGAGAT	0.463													115	280					0	0	0.003610	0	0
SUSD4	55061	broad.mit.edu	37	1	223465924	223465924	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:223465924C>T	uc001hnx.2	-	2	852	c.218G>A	c.(217-219)GGG>GAG	p.G73E	SUSD4_uc001hny.3_Missense_Mutation_p.G73E|SUSD4_uc010puw.1_5'UTR|SUSD4_uc001hnz.2_Missense_Mutation_p.G73E|SUSD4_uc010pux.1_Intron	NM_017982	NP_060452	Q5VX71	SUSD4_HUMAN	sushi domain containing 4 isoform a	73	Sushi 1.|Extracellular (Potential).					integral to membrane					0				GBM - Glioblastoma multiforme(131;0.0611)		AAAGAAAACCCCTCCGCTGGG	0.507													23	68					0	0	0.002780	0	0
PARP1	142	broad.mit.edu	37	1	226564857	226564857	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:226564857G>A	uc001hqd.3	-	13	2064	c.1893C>T	c.(1891-1893)TTC>TTT	p.F631F		NM_001618	NP_001609	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase family, member 1	631					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)		GATACTTCGTGAAATTTTTGG	0.453								Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA					67	118					0	0	0.003610	0	0
OBSCN	84033	broad.mit.edu	37	1	228437821	228437821	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:228437821C>T	uc009xez.1	+	14	4233	c.4189C>T	c.(4189-4191)CGA>TGA	p.R1397*	OBSCN_uc001hsn.2_Nonsense_Mutation_p.R1397*	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	1397	Ig-like 14.			RM -> HV (in Ref. 1; CAC85749).|R -> C (in Ref. 1; CAC85746).	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)				CTCGAAAGTTCGAATGGAGGC	0.672													36	54					0	0	0.005524	0	0
TRIM67	440730	broad.mit.edu	37	1	231339636	231339636	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:231339636C>T	uc009xfn.1	+	6	1600	c.1558C>T	c.(1558-1560)CTG>TTG	p.L520L		NM_001004342	NP_001004342	Q6ZTA4	TRI67_HUMAN	tripartite motif-containing 67	520	Fibronectin type-III.					cytoplasm|cytoskeleton	zinc ion binding			ovary(2)|breast(1)|kidney(1)	4	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				CCTACTGCAGCTGGAGAAATG	0.667													7	18					0	0	0.003080	0	0
EDARADD	128178	broad.mit.edu	37	1	236631531	236631531	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:236631531G>A	uc001hxu.1	+	5	285	c.220G>A	c.(220-222)GGA>AGA	p.G74R	EDARADD_uc001hxv.1_Missense_Mutation_p.G64R	NM_145861	NP_665860	Q8WWZ3	EDAD_HUMAN	EDAR-associated death domain isoform A	74					cell differentiation|signal transduction	cytoplasm					0	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TGGTTTTTAGGGAGAAGAAAA	0.368													54	133					0	0	0.003610	0	0
RYR2	6262	broad.mit.edu	37	1	237780633	237780633	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:237780633G>A	uc001hyl.1	+	38	5883	c.5763G>A	c.(5761-5763)CGG>CGA	p.R1921R		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1921	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)			TCCGGCACCGGATAGAAGCCA	0.413													10	22					0	0	0.000978	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090459	238090459	+	RNA	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:238090459G>A	uc010pyc.1	+	12		c.1965G>A				NR_027247				Homo sapiens mRNA; cDNA DKFZp434B2115 (from clone DKFZp434B2115).												0						AGGCCTGCCCGAACCCCAAGG	0.577													14	13					0	0	0.002450	0	0
FMN2	56776	broad.mit.edu	37	1	240371045	240371045	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:240371045C>T	uc010pyd.1	+	5	3158	c.2933C>T	c.(2932-2934)CCA>CTA	p.P978L	FMN2_uc010pye.1_Missense_Mutation_p.P982L	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	978	Pro-rich.|FH1.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ATACCTCCTCCACCCCCTCTA	0.716													4	5					0	0	0.000248	0	0
FMN2	56776	broad.mit.edu	37	1	240601493	240601493	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:240601493A>C	uc010pyd.1	+	16	5268	c.5043A>C	c.(5041-5043)AAA>AAC	p.K1681N	FMN2_uc010pye.1_Missense_Mutation_p.K1685N|FMN2_uc010pyg.1_Missense_Mutation_p.K277N	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	1681	Potential.|FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AAGAGAACAAACTTCTTCTAC	0.403													23	68					0	0	0.003330	0	0
PPPDE1	51029	broad.mit.edu	37	1	244852555	244852555	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:244852555T>A	uc001iao.2	+	3	384	c.120T>A	c.(118-120)TTT>TTA	p.F40L	PPPDE1_uc001iap.2_Intron	NM_016076	NP_057160	Q9BSY9	PPDE1_HUMAN	PPPDE peptidase domain containing 1	40	PPPDE peptidase.									breast(3)	3						TTTCAGAATTTGCTTATGGTG	0.328													33	118					0	0	0.006230	0	0
EFCAB2	84288	broad.mit.edu	37	1	245245421	245245421	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:245245421G>A	uc001ibd.2	+	5	769	c.628G>A	c.(628-630)GAA>AAA	p.E210K	EFCAB2_uc001ibc.2_Missense_Mutation_p.E74K|EFCAB2_uc010pyo.1_Missense_Mutation_p.E84K|EFCAB2_uc010pyp.1_Missense_Mutation_p.E74K|EFCAB2_uc001ibe.2_RNA	NR_026586		Q5VUJ9	EFCB2_HUMAN	RecName: Full=EF-hand calcium-binding domain-containing protein 2;	210							calcium ion binding				0	all_cancers(71;2.93e-06)|all_epithelial(71;2.13e-05)|all_lung(81;0.0337)|Lung NSC(105;0.0472)|Ovarian(71;0.0584)|Breast(184;0.0716)|all_neural(11;0.0982)		OV - Ovarian serous cystadenocarcinoma(106;0.015)			CATTCGATTCGAAAAATTTCT	0.269													27	72					0	0	0.008361	0	0
ZNF124	7678	broad.mit.edu	37	1	247320008	247320008	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:247320008G>A	uc001ick.2	-	4	1055	c.916C>T	c.(916-918)CGT>TGT	p.R306C	ZNF124_uc001ici.2_Intron|ZNF124_uc001icj.1_Missense_Mutation_p.R244C	NM_003431	NP_003422	Q15973	ZN124_HUMAN	zinc finger protein 124	306	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			TCATGGTCACGAAGGGAACTG	0.418													21	39					0	0	0.003954	0	0
NLRP3	114548	broad.mit.edu	37	1	247586554	247586554	+	Silent	SNP	G	A	A	rs149161277		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:247586554G>A	uc001icr.2	+	4	444	c.306G>A	c.(304-306)TCG>TCA	p.S102S	NLRP3_uc001ics.2_Silent_p.S102S|NLRP3_uc001icu.2_Silent_p.S102S|NLRP3_uc001icw.2_Silent_p.S102S|NLRP3_uc001icv.2_Silent_p.S102S|NLRP3_uc010pyw.1_Silent_p.S100S|NLRP3_uc001ict.1_Silent_p.S100S	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a	102					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.S102S(1)		lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CACGTGTTTCGAATCCCACTG	0.398													25	92					0	0	0.005443	0	0
NLRP3	114548	broad.mit.edu	37	1	247586558	247586558	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:247586558C>T	uc001icr.2	+	4	448	c.310C>T	c.(310-312)CCC>TCC	p.P104S	NLRP3_uc001ics.2_Missense_Mutation_p.P104S|NLRP3_uc001icu.2_Missense_Mutation_p.P104S|NLRP3_uc001icw.2_Missense_Mutation_p.P104S|NLRP3_uc001icv.2_Missense_Mutation_p.P104S|NLRP3_uc010pyw.1_Missense_Mutation_p.P102S|NLRP3_uc001ict.1_Missense_Mutation_p.P102S	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a	104					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TGTTTCGAATCCCACTGTGAT	0.403													28	92					0	0	0.007291	0	0
NLRP3	114548	broad.mit.edu	37	1	247586560	247586560	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:247586560C>T	uc001icr.2	+	4	450	c.312C>T	c.(310-312)CCC>CCT	p.P104P	NLRP3_uc001ics.2_Silent_p.P104P|NLRP3_uc001icu.2_Silent_p.P104P|NLRP3_uc001icw.2_Silent_p.P104P|NLRP3_uc001icv.2_Silent_p.P104P|NLRP3_uc010pyw.1_Silent_p.P102P|NLRP3_uc001ict.1_Silent_p.P102P	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a	104					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TTTCGAATCCCACTGTGATAT	0.408													25	97					0	0	0.005443	0	0
NLRP3	114548	broad.mit.edu	37	1	247588870	247588870	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:247588870C>T	uc001icr.2	+	5	2263	c.2125C>T	c.(2125-2127)CCA>TCA	p.P709S	NLRP3_uc001ics.2_Missense_Mutation_p.P709S|NLRP3_uc001icu.2_Missense_Mutation_p.P709S|NLRP3_uc001icw.2_Missense_Mutation_p.P709S|NLRP3_uc001icv.2_Missense_Mutation_p.P709S|NLRP3_uc010pyw.1_Missense_Mutation_p.P707S|NLRP3_uc001ict.1_Missense_Mutation_p.P707S	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a	709					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GTGTGTCCTCCCAAGCTCCTC	0.562													16	24					0	0	0.007413	0	0
OR2G2	81470	broad.mit.edu	37	1	247751908	247751908	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:247751908C>A	uc010pyy.1	+	1	247	c.247C>A	c.(247-249)CAG>AAG	p.Q83K		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G,	83	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TGTTATTCCCCAGCTCCTGGT	0.502													43	64					4.57556e-38	6.0117e-38	0.003214	1	0
OR6F1	343169	broad.mit.edu	37	1	247875554	247875554	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:247875554G>A	uc001idj.1	-	1	504	c.504C>T	c.(502-504)TTC>TTT	p.F168F		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F,	168	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GGGGGCCACAGAAGGACAGGC	0.597													30	45					0	0	0.001786	0	0
TRIM58	25893	broad.mit.edu	37	1	248039598	248039598	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:248039598C>T	uc001ido.2	+	6	1316	c.1268C>T	c.(1267-1269)TCA>TTA	p.S423L	OR2W3_uc001idp.1_Intron	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	tripartite motif-containing 58	423	B30.2/SPRY.					intracellular	zinc ion binding			skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)	7	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)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGTGAAATTTCATTCTACAAT	0.438													47	102					0	0	0.003610	0	0
OR2L3	391192	broad.mit.edu	37	1	248224624	248224624	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:248224624C>T	uc001idx.1	+	1	641	c.641C>T	c.(640-642)TCA>TTA	p.S214L	OR2L13_uc001ids.2_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L,	214	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			ATTGCTATTTCATGTTCCTAT	0.512													26	79					0	0	0.004656	0	0
OR2L13	284521	broad.mit.edu	37	1	248262848	248262848	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:248262848G>A	uc001ids.2	+	3	508	c.171G>A	c.(169-171)CCG>CCA	p.P57P		NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L,	57	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			TCCACACACCGATGTACTTTC	0.517													40	76					0	0	0.002222	0	0
OR2M1P	388762	broad.mit.edu	37	1	248285860	248285860	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:248285860C>T	uc001idy.1	+	1	423	c.423C>T	c.(421-423)TTC>TTT	p.F141F		NR_002141				RecName: Full=Olfactory receptor 2M5;												0						TGCTTGTTTTCCCTGTTGCAA	0.413													7	159					0	0	0.000978	0	0
OR2M2	391194	broad.mit.edu	37	1	248343836	248343836	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:248343836C>T	uc010pzf.1	+	1	549	c.549C>T	c.(547-549)TCC>TCT	p.S183S		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M,	183	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|skin(1)	4	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			AATTCCCTTCCCTACTAATCC	0.413													59	133					0	0	0.003610	0	0
OR2M2	391194	broad.mit.edu	37	1	248343914	248343914	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:248343914C>T	uc010pzf.1	+	1	627	c.627C>T	c.(625-627)TTC>TTT	p.F209F		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M,	209	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|skin(1)	4	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TGCTTGTTTTCCCTGTTGCAA	0.418													37	153					0	0	0.007835	0	0
OR2M3	127062	broad.mit.edu	37	1	248366491	248366491	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:248366491G>A	uc010pzg.1	+	1	122	c.122G>A	c.(121-123)GGA>GAA	p.G41E		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M,	41	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCCTTCATGGGAAACTCTGTC	0.537													57	118					0	0	0.003610	0	0
OR2T33	391195	broad.mit.edu	37	1	248437021	248437021	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:248437021G>A	uc010pzi.1	-	1	96	c.96C>T	c.(94-96)ATC>ATT	p.I32I		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T,	32	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2	all_cancers(71;0.000124)|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;0.0245)			AGGTCAAAACGATACTCAGAA	0.478													24	26					0	0	0.007291	0	0
OR2M7	391196	broad.mit.edu	37	1	248487623	248487623	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:248487623A>G	uc010pzk.1	-	1	248	c.248T>C	c.(247-249)TTC>TCC	p.F83S		NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M,	83	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)			CAAGTAGTTGAAGGCCATCTT	0.498													67	143					0	0	0.003610	0	0
OR2T4	127074	broad.mit.edu	37	1	248525490	248525490	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:248525490C>T	uc001ieh.1	+	1	608	c.608C>T	c.(607-609)TCC>TTC	p.S203F		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T,	203	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTCCGTGGATCCCGGGAGATT	0.498													30	95					0	0	0.008361	0	0
OR2T6	254879	broad.mit.edu	37	1	248551611	248551611	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:248551611G>A	uc001iei.1	+	1	702	c.702G>A	c.(700-702)AGG>AGA	p.R234R		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T,	234	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTGAAGGGAGGAAGAAGGCCT	0.522													34	60					0	0	0.002836	0	0
ADARB2	105	broad.mit.edu	37	10	1405873	1405874	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:1405873_1405874GG>AA	uc009xhq.2	-	3	800_801	c.426_427CC>TT	c.(424-429)TACCGG>TATTGG	p.R143W		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2	143	DRBM 1.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			large_intestine(2)|central_nervous_system(1)	3		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GACACTGTCCGGTACTGCAGGC	0.653													18	15					0	0	0.004672	0	0
SFMBT2	57713	broad.mit.edu	37	10	7262456	7262456	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:7262456G>A	uc009xio.1	-	11	1338	c.1247C>T	c.(1246-1248)GCT>GTT	p.A416V	SFMBT2_uc001ijn.1_Missense_Mutation_p.A416V|SFMBT2_uc010qay.1_Intron	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	416	MBT 4.				regulation of transcription, DNA-dependent	nucleus				ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						GGGGTTCACAGCTTCAAGTTT	0.532													24	71					0	0	0.002299	0	0
UPF2	26019	broad.mit.edu	37	10	11985081	11985081	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:11985081T>A	uc001ila.2	-	16	3735	c.3261A>T	c.(3259-3261)GAA>GAT	p.E1087D	UPF2_uc001ilb.2_Missense_Mutation_p.E1087D|UPF2_uc001ilc.2_Missense_Mutation_p.E1087D	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog	1087	Sufficient for interaction with UPF1 C- terminus.|Glu-rich.|Sufficient for interaction with EIF4A1 and EIF1.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			central_nervous_system(2)|ovary(1)	3		Renal(717;0.228)				CTTCATCGGTTTCATTTTCCT	0.328													143	351					0	0	0.003610	0	0
DHTKD1	55526	broad.mit.edu	37	10	12139837	12139837	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:12139837C>T	uc001ild.3	+	8	1612	c.1513C>T	c.(1513-1515)CTG>TTG	p.L505L		NM_018706	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain	505					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			ovary(1)|central_nervous_system(1)	2		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			TGCCCTGAACCTGCAGGCCCA	0.552													128	321					0	0	0.003610	0	0
SEC61A2	55176	broad.mit.edu	37	10	12206359	12206359	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:12206359G>A	uc001ile.2	+	12	1484	c.1337G>A	c.(1336-1338)GGA>GAA	p.G446E	SEC61A2_uc010qbq.1_Missense_Mutation_p.G424E|SEC61A2_uc001ilf.3_Intron|SEC61A2_uc001ilh.3_Intron|SEC61A2_uc001ilg.3_Intron	NM_018144	NP_060614	Q9H9S3	S61A2_HUMAN	Sec61 alpha form 2 isoform a	446	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			ovary(1)	1		Renal(717;0.228)				TCTGGCACTGGAATTCTGCTA	0.483													139	328					0	0	0.003610	0	0
FAM171A1	221061	broad.mit.edu	37	10	15255455	15255455	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:15255455G>A	uc001iob.2	-	8	2139	c.2132C>T	c.(2131-2133)TCC>TTC	p.S711F		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	hypothetical protein LOC221061 precursor	711	Cytoplasmic (Potential).					integral to membrane				ovary(2)|breast(1)|skin(1)	4						GCCATCCAAGGAGACGAACCA	0.552													26	59					0	0	0.003954	0	0
FAM171A1	221061	broad.mit.edu	37	10	15256467	15256468	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:15256467_15256468GG>AA	uc001iob.2	-	8	1126_1127	c.1119_1120CC>TT	c.(1117-1122)TTCCCT>TTTTCT	p.P374S		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	hypothetical protein LOC221061 precursor	374	Cytoplasmic (Potential).					integral to membrane				ovary(2)|breast(1)|skin(1)	4						AGCGGGCCAGGGAATTCTGACG	0.589													13	38					0	0	0.004672	0	0
ITGA8	8516	broad.mit.edu	37	10	15590465	15590465	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:15590465T>C	uc001ioc.1	-	27	2869	c.2869A>G	c.(2869-2871)ACC>GCC	p.T957A	ITGA8_uc010qcb.1_Missense_Mutation_p.T942A	NM_003638	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8 precursor	957	Extracellular (Potential).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			ovary(3)|lung(3)	6						TGGAGGAAGGTGTGGGCCCAT	0.473													15	39					0	0	0.003163	0	0
SLC39A12	221074	broad.mit.edu	37	10	18270240	18270240	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:18270240G>A	uc001ipo.2	+	6	1198	c.925_splice	c.e6-1	p.T309_splice	SLC39A12_uc001ipn.2_Splice_Site_p.T309_splice|SLC39A12_uc001ipp.2_Splice_Site_p.T309_splice|SLC39A12_uc010qck.1_Splice_Site_p.T175_splice	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter),						zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)|breast(1)	2						TCCTCACACAGACCTGCTTCT	0.428													13	53					0	0	0.004007	0	0
PLXDC2	84898	broad.mit.edu	37	10	20357116	20357116	+	Silent	SNP	C	T	T	rs7912840		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:20357116C>T	uc001iqg.1	+	4	1126	c.489C>T	c.(487-489)TTC>TTT	p.F163F	PLXDC2_uc001iqh.1_Silent_p.F114F	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	plexin domain containing 2 precursor	163	Extracellular (Potential).					integral to membrane				ovary(2)|central_nervous_system(1)|skin(1)	4						ATCTGTCCTTCGATTTTCCAT	0.388													14	43					0	0	0.003163	0	0
NEBL	10529	broad.mit.edu	37	10	21101732	21101732	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:21101732G>A	uc001iqi.2	-	24	2881	c.2484C>T	c.(2482-2484)ATC>ATT	p.I828I	NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Silent_p.I165I	NM_006393	NP_006384	O76041	NEBL_HUMAN	nebulette sarcomeric isoform	828	Nebulin 23.				regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2						CCATCTCCACGATGTGAGGGT	0.542													12	34					0	0	0.002450	0	0
NEBL	10529	broad.mit.edu	37	10	21108351	21108351	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:21108351G>A	uc001iqi.2	-	20	2452	c.2055_splice	c.e20+1	p.A685_splice	NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron|NEBL_uc001iql.1_RNA	NM_006393	NP_006384	O76041	NEBL_HUMAN	nebulette sarcomeric isoform						regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2						GAAACGACTTGCCGCACTCAG	0.353													67	151					0	0	0.003610	0	0
MYO3A	53904	broad.mit.edu	37	10	26465724	26465724	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:26465724C>T	uc001isn.2	+	31	4748	c.4388C>T	c.(4387-4389)TCG>TTG	p.S1463L	MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1463					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						CTGGGTGTCTCGCACCATAAG	0.363													21	38					0	0	0.003954	0	0
Unknown	0	broad.mit.edu	37	10	30992577	30992577	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:30992577G>A	uc010qdx.1	+	6	1019	c.477G>A	c.(475-477)GGG>GGA	p.G159G						SubName: Full=cDNA FLJ59642, highly similar to Supervillin;																		AGAACCCCGGGGAACTTGCCC	0.418													56	129					0	0	0.003610	0	0
ZEB1	6935	broad.mit.edu	37	10	31810669	31810669	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:31810669C>T	uc001ivs.3	+	7	2469	c.2406C>T	c.(2404-2406)ATC>ATT	p.I802I	ZEB1_uc001ivr.3_Silent_p.I584I|ZEB1_uc010qee.1_Silent_p.I584I|ZEB1_uc010qef.1_Silent_p.I584I|ZEB1_uc009xlj.1_Silent_p.I728I|ZEB1_uc010qeg.1_Silent_p.I661I|ZEB1_uc009xlk.1_Silent_p.I584I|ZEB1_uc001ivt.3_Silent_p.I584I|ZEB1_uc001ivu.3_Silent_p.I803I|ZEB1_uc001ivv.3_Silent_p.I782I|ZEB1_uc010qeh.1_Silent_p.I735I|ZEB1_uc009xlo.1_Silent_p.I785I|ZEB1_uc009xlp.2_Silent_p.I786I	NM_030751	NP_110378	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1 isoform b	802					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(3)|central_nervous_system(2)	5		Prostate(175;0.0156)				CCATAAATATCGCTATACCTA	0.463													17	43					0	0	0.004990	0	0
KIF5B	3799	broad.mit.edu	37	10	32328322	32328322	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:32328322G>A	uc001iwe.3	-	4	796	c.326C>T	c.(325-327)CCA>CTA	p.P109L		NM_004521	NP_004512	P33176	KINH_HUMAN	kinesin family member 5B	109	Kinesin-motor.				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(4)	lung(4)|ovary(1)	5		Prostate(175;0.0137)				CACTATTCTTGGAATAATTCC	0.249													23	54					0	0	0.004656	0	0
CCDC7	221016	broad.mit.edu	37	10	32856770	32856770	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:32856770C>T	uc001iwj.2	+	16	1940	c.1370C>T	c.(1369-1371)TCA>TTA	p.S457L	CCDC7_uc001iwk.2_Missense_Mutation_p.S457L|CCDC7_uc009xlv.2_RNA|C10orf68_uc001iwl.1_5'UTR|C10orf68_uc001iwm.1_5'UTR|C10orf68_uc001iwn.3_5'UTR	NM_145023	NP_659460	Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7	457											0		Breast(68;0.000207)|Prostate(175;0.0107)				TCACTGGTTTCAGATTCAGGT	0.343													32	58					0	0	0.005524	0	0
C10orf68	79741	broad.mit.edu	37	10	32978001	32978001	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:32978001G>A	uc001iwn.3	+	5	648	c.175G>A	c.(175-177)GAA>AAA	p.E59K	C10orf68_uc001iwl.1_Missense_Mutation_p.E67K|C10orf68_uc001iwm.1_Missense_Mutation_p.E73K|C10orf68_uc010qei.1_5'UTR	NM_024688	NP_078964	Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68	59										skin(2)|ovary(1)	3						AGAACCAAATGAAAATCTTAT	0.308													13	49					0	0	0.001855	0	0
C10orf68	79741	broad.mit.edu	37	10	33018286	33018286	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:33018286G>A	uc001iwn.3	+	10	1200	c.727G>A	c.(727-729)GAT>AAT	p.D243N	C10orf68_uc001iwl.1_Missense_Mutation_p.D251N|C10orf68_uc001iwm.1_Missense_Mutation_p.D219N|C10orf68_uc010qei.1_Missense_Mutation_p.D155N|C10orf68_uc001iwo.3_RNA	NM_024688	NP_078964	Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68	243										skin(2)|ovary(1)	3						CAAAAAAAAGGATATATCACT	0.323													14	50					0	0	0.003163	0	0
ITGB1	3688	broad.mit.edu	37	10	33218799	33218799	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:33218799C>T	uc001iws.3	-	4	463	c.327G>A	c.(325-327)GAG>GAA	p.E109E	ITGB1_uc001iwp.3_Silent_p.E109E|ITGB1_uc001iwq.3_Silent_p.E109E|ITGB1_uc001iwr.3_Silent_p.E109E|ITGB1_uc001iwt.3_Silent_p.E109E|ITGB1_uc001iwu.1_Silent_p.E109E	NM_133376	NP_596867	P05556	ITB1_HUMAN	integrin beta 1 isoform 1A precursor	109	Extracellular (Potential).				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			upper_aerodigestive_tract(1)|ovary(1)	2		Ovarian(717;1.34e-05)|Breast(68;0.0634)				GAGTAATATCCTCTGGCTTGA	0.423													52	134					0	0	0.003610	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37431154	37431154	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:37431154A>C	uc001iza.1	+	7	1260	c.1161A>C	c.(1159-1161)GAA>GAC	p.E387D		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	443						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9						AAGTTTTGGAAAAAGGAAGAT	0.378													11	46					0	0	0.008291	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37482000	37482000	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:37482000G>A	uc001iza.1	+	26	2452	c.2353G>A	c.(2353-2355)GAT>AAT	p.D785N		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	841						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9						AGAGTCTCCTGATAATGATGG	0.294													30	103					0	0	0.002836	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37486386	37486386	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:37486386G>A	uc001iza.1	+	29	2625	c.2526G>A	c.(2524-2526)AAG>AAA	p.K842K		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	898						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9						TGGAATTGAAGAATGAACAAA	0.338													24	69					0	0	0.005443	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37506687	37506687	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:37506687G>A	uc001iza.1	+	33	3079	c.2980G>A	c.(2980-2982)GAA>AAA	p.E994K		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1050	Potential.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9						AAAAATTAGGGAAGAATTAGG	0.318													18	66					0	0	0.006122	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508310	37508310	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:37508310C>T	uc001iza.1	+	34	3601	c.3502C>T	c.(3502-3504)CAC>TAC	p.H1168Y		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1224						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9						ACCTGCTTTCCACATTGCAGG	0.398													15	43					0	0	0.004007	0	0
TMEM72	643236	broad.mit.edu	37	10	45429120	45429120	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:45429120A>T	uc001jbn.2	+	4	442	c.245A>T	c.(244-246)GAG>GTG	p.E82V	uc001jbk.1_Intron|uc001jbl.2_Intron|TMEM72_uc009xmm.1_5'UTR	NM_001123376	NP_001116848	A0PK05	TMM72_HUMAN	transmembrane protein 72	82						integral to membrane					0						AGAGTAAGGGAGAAAGCCCAC	0.602													16	29					0	0	0.007413	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999436	46999436	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:46999436G>A	uc001jec.2	+	3	691	c.556G>A	c.(556-558)GCC>ACC	p.A186T	GPRIN2_uc010qfq.1_5'Flank	NM_014696	NP_055511	O60269	GRIN2_HUMAN	G protein-regulated inducer of neurite outgrowth	186											0						TTCTAACTCAGCCTGGATGCT	0.632													5	30					0	0	0.001984	0	0
RBP3	5949	broad.mit.edu	37	10	48388759	48388759	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:48388759C>T	uc001jez.2	-	1	2233	c.2119G>A	c.(2119-2121)GAG>AAG	p.E707K		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	707	4 X approximate tandem repeats.|3.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			large_intestine(1)|central_nervous_system(1)	2					Vitamin A(DB00162)	ACCACCAGCTCGCCAGGGCTG	0.622													14	45					0	0	0.004990	0	0
LRRC18	474354	broad.mit.edu	37	10	50122012	50122012	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:50122012C>T	uc001jhd.2	-	1	269	c.189G>A	c.(187-189)AGG>AGA	p.R63R	WDFY4_uc001jha.3_Intron|LRRC18_uc001jhe.1_Silent_p.R63R	NM_001006939	NP_001006940	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	63	LRR 2.					cytoplasm				ovary(1)|pancreas(1)	2						CAGGGATCTTCCTGATAAGAT	0.527													9	36					0	0	0.001368	0	0
C10orf72	196740	broad.mit.edu	37	10	50256574	50256574	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:50256574C>T	uc001jhf.2	-	6	753	c.724G>A	c.(724-726)GGC>AGC	p.G242S		NM_001031746	NP_001026916	Q8IW00	CJ072_HUMAN	hypothetical protein LOC196740 isoform 1	242	Cytoplasmic (Potential).					integral to membrane|plasma membrane					0						TGCCTCTTGCCCTTCTTGGGC	0.507													22	46					0	0	0.005443	0	0
C10orf128	170371	broad.mit.edu	37	10	50396379	50396379	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:50396379C>T	uc001jhn.3	-	1	29	c.3G>A	c.(1-3)ATG>ATA	p.M1I	C10orf128_uc001jhm.3_Missense_Mutation_p.M1I|C10orf128_uc010qgo.1_Missense_Mutation_p.M1I|C10orf128_uc001jho.3_Missense_Mutation_p.M1I	NM_001010863	NP_001010863	Q5T292	CJ128_HUMAN	hypothetical protein LOC170371 precursor	1						integral to membrane				lung(1)	1						CCCCCAAGTTCATGCTGGCGC	0.647													9	16					0	0	0.008291	0	0
OGDHL	55753	broad.mit.edu	37	10	50952058	50952058	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:50952058C>A	uc001jie.2	-	14	1985	c.1843G>T	c.(1843-1845)GAC>TAC	p.D615Y	OGDHL_uc009xog.2_Missense_Mutation_p.D642Y|OGDHL_uc010qgt.1_Missense_Mutation_p.D558Y|OGDHL_uc010qgu.1_Missense_Mutation_p.D406Y|OGDHL_uc009xoh.2_Missense_Mutation_p.D406Y	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like isoform a	615					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			pancreas(1)	1						ATCTTAAAGTCCTCCAGGGGC	0.617													10	20					1.76689e-08	2.29839e-08	0.006214	1	0
AGAP7	653268	broad.mit.edu	37	10	51465504	51465504	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:51465504G>A	uc001jio.2	-	7	1078	c.952C>T	c.(952-954)CCA>TCA	p.P318S	PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron	NM_001077685	NP_001071153	Q5VUJ5	AGAP7_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH	318	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding				0						CACTTTCCTGGGACTTTGATG	0.468													40	111					0	0	0.003610	0	0
Unknown	0	broad.mit.edu	37	10	52390546	52390546	+	RNA	SNP	C	T	T	rs142609014	by1000genomes	TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:52390546C>T	uc001jjf.1	+	2		c.1239C>T								Homo sapiens cDNA FLJ12320 fis, clone MAMMA1002082.																		CACTCCTGATCGTAAGTTTCC	0.438													9	17					0	0	0.004482	0	0
MBL2	4153	broad.mit.edu	37	10	54531391	54531391	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:54531391G>A	uc001jjt.2	-	1	70	c.5C>T	c.(4-6)TCC>TTC	p.S2F		NM_000242	NP_000233	P11226	MBL2_HUMAN	soluble mannose-binding lectin precursor	2					acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			ovary(1)	1						TGGAAACAGGGACATGGTCCT	0.502													5	7					0	0	0.000602	0	0
PCDH15	65217	broad.mit.edu	37	10	55582235	55582235	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:55582235G>A	uc001jju.1	-	33	5646	c.5251C>T	c.(5251-5253)CCT>TCT	p.P1751S	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.P1748S|PCDH15_uc010qhw.1_Missense_Mutation_p.P1711S|PCDH15_uc010qhx.1_Missense_Mutation_p.P1682S|PCDH15_uc010qhy.1_Missense_Mutation_p.P1758S|PCDH15_uc010qhz.1_Missense_Mutation_p.P1753S|PCDH15_uc010qia.1_Missense_Mutation_p.P1731S|PCDH15_uc010qib.1_Missense_Mutation_p.P1728S	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	1751	Poly-Pro.|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)				gaaataggaggaggaggggga	0.149										HNSCC(58;0.16)			3	9					0	0	0.000248	0	0
CCDC6	8030	broad.mit.edu	37	10	61574451	61574451	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:61574451A>T	uc001jks.3	-	4	1281	c.645T>A	c.(643-645)AAT>AAA	p.N215K		NM_005436	NP_005427	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	215	5.|5 X 29 AA tandem repeats.|Potential.					cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton			ovary(3)|breast(1)	4				Kidney(211;0.0597)		TCCAGAGGCGATTAACTAGTG	0.368													24	69					0	0	0.007291	0	0
ANK3	288	broad.mit.edu	37	10	61823930	61823930	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:61823930C>T	uc001jky.2	-	39	12628	c.12436G>A	c.(12436-12438)GGA>AGA	p.G4146R	ANK3_uc001jkw.2_Missense_Mutation_p.G667R|ANK3_uc009xpa.2_Missense_Mutation_p.G667R|ANK3_uc001jkx.2_Missense_Mutation_p.G711R|ANK3_uc010qih.1_Missense_Mutation_p.G1534R|ANK3_uc001jkz.3_Missense_Mutation_p.G1527R|ANK3_uc001jkv.2_Missense_Mutation_p.G66R	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	4146	Death.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						GCATTTTTTCCGTCTCTGGTA	0.299													26	57					0	0	0.007291	0	0
ANK3	288	broad.mit.edu	37	10	61844448	61844448	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:61844448C>T	uc001jky.2	-	32	4178	c.3986G>A	c.(3985-3987)CGA>CAA	p.R1329Q	ANK3_uc001jkw.2_Missense_Mutation_p.R463Q|ANK3_uc009xpa.2_Missense_Mutation_p.R463Q|ANK3_uc001jkx.2_Missense_Mutation_p.R507Q|ANK3_uc010qih.1_Missense_Mutation_p.R1330Q|ANK3_uc001jkz.3_Missense_Mutation_p.R1323Q|ANK3_uc001jla.1_Missense_Mutation_p.R395Q|ANK3_uc001jlb.1_Missense_Mutation_p.R847Q|ANK3_uc001jkv.2_5'Flank	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	1329					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						GCAGAAACATCGCAAGGAAGA	0.398													36	96					0	0	0.005524	0	0
ANK3	288	broad.mit.edu	37	10	61946567	61946567	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:61946567C>T	uc001jky.2	-	17	2183	c.1991G>A	c.(1990-1992)GGA>GAA	p.G664E	ANK3_uc010qih.1_Missense_Mutation_p.G647E|ANK3_uc001jkz.3_Missense_Mutation_p.G658E|ANK3_uc001jlb.1_Missense_Mutation_p.G193E|ANK3_uc001jlc.1_Missense_Mutation_p.G325E	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	664	ANK 19.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						GGAAGCAATTCCTTGCCGGGT	0.527													16	42					0	0	0.007413	0	0
ANK3	288	broad.mit.edu	37	10	62039349	62039349	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:62039349C>T	uc001jky.2	-	2	355	c.163G>A	c.(163-165)GAA>AAA	p.E55K	ANK3_uc010qih.1_Missense_Mutation_p.E38K|ANK3_uc001jkz.3_Missense_Mutation_p.E49K|ANK3_uc001jlb.1_5'UTR	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	55					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						AGGGCCTTTTCAAGGTGTCCA	0.328													58	122					0	0	0.003610	0	0
ZNF365	22891	broad.mit.edu	37	10	64159351	64159351	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:64159351G>A	uc001jly.3	+	5	1134	c.1072G>A	c.(1072-1074)GGA>AGA	p.G358R	ZNF365_uc001jmb.3_Intron|ZNF365_uc001jmc.2_Intron|ZNF365_uc001jlz.3_Missense_Mutation_p.G343R|ZNF365_uc001jma.3_RNA	NM_014951	NP_055766	Q70YC4	TALAN_HUMAN	zinc finger protein 365 isoform A	Error:Variant_position_missing_in_Q70YC4_after_alignment										ovary(1)|skin(1)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					CCACCCAAAGGGAAGGAACCA	0.567													34	89					0	0	0.004878	0	0
EGR2	1959	broad.mit.edu	37	10	64573881	64573881	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:64573881G>A	uc010qim.1	-	3	671	c.517C>T	c.(517-519)CCT>TCT	p.P173S	EGR2_uc010qin.1_Missense_Mutation_p.P123S|EGR2_uc001jmi.2_Missense_Mutation_p.P173S|EGR2_uc010qio.1_Missense_Mutation_p.P186S|EGR2_uc009xph.2_Missense_Mutation_p.P173S	NM_001136177	NP_001129649	P11161	EGR2_HUMAN	early growth response 2 protein isoform a	173					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)					CCAGAATAAGGAGGAGGAGGC	0.637													29	53					0	0	0.005443	0	0
JMJD1C	221037	broad.mit.edu	37	10	64968437	64968437	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:64968437C>T	uc001jmn.2	-	10	3292	c.2992G>A	c.(2992-2994)GAT>AAT	p.D998N	JMJD1C_uc001jml.2_Missense_Mutation_p.D779N|JMJD1C_uc001jmm.2_Missense_Mutation_p.D710N|JMJD1C_uc010qiq.1_Missense_Mutation_p.D816N|JMJD1C_uc009xpi.2_Missense_Mutation_p.D816N|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc009xpk.1_Missense_Mutation_p.D35N	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	998					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					AATACTGGATCCACAAAATGC	0.418													38	103					0	0	0.007835	0	0
CTNNA3	29119	broad.mit.edu	37	10	67862957	67862957	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:67862957G>A	uc009xpn.1	-	14	2058	c.1935C>T	c.(1933-1935)GTC>GTT	p.V645V	CTNNA3_uc001jmw.2_Silent_p.V645V	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN	catenin, alpha 3	645					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						TGTGACTGCGGACCTCGTGTT	0.413													17	61					0	0	0.007413	0	0
MYPN	84665	broad.mit.edu	37	10	69934044	69934044	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:69934044C>T	uc001jnm.3	+	12	2380	c.2195C>T	c.(2194-2196)ACC>ATC	p.T732I	MYPN_uc001jnn.3_Missense_Mutation_p.T457I|MYPN_uc001jno.3_Missense_Mutation_p.T732I|MYPN_uc009xpt.2_Missense_Mutation_p.T732I|MYPN_uc010qit.1_Missense_Mutation_p.T438I|MYPN_uc010qiu.1_RNA	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	myopalladin	732						nucleus|sarcomere	actin binding			ovary(3)|skin(2)	5						TCCACGAACACCACCGCAGCA	0.552													38	70					0	0	0.006999	0	0
KIAA1279	26128	broad.mit.edu	37	10	70748929	70748929	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:70748929G>A	uc001joy.2	+	1	437	c.341G>A	c.(340-342)GGG>GAG	p.G114E		NM_015634	NP_056449	Q96EK5	KBP_HUMAN	KIF1 binding protein	114					cell differentiation|mitochondrial transport|nervous system development	mitochondrion	kinesin binding			ovary(1)	1						CTGTCGGCGGGGGAGGAGCAC	0.682													11	33					0	0	0.008291	0	0
HK1	3098	broad.mit.edu	37	10	71144154	71144154	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:71144154C>T	uc001jpl.3	+	11	1737	c.1636C>T	c.(1636-1638)CGT>TGT	p.R546C	HK1_uc001jpg.3_Missense_Mutation_p.R534C|HK1_uc001jph.3_Missense_Mutation_p.R550C|HK1_uc001jpi.3_Missense_Mutation_p.R550C|HK1_uc001jpj.3_Missense_Mutation_p.R581C|HK1_uc001jpk.3_Missense_Mutation_p.R545C|HK1_uc009xqd.2_Missense_Mutation_p.R424C	NM_000188	NP_000179	P19367	HXK1_HUMAN	hexokinase 1 isoform HKI	546	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			ovary(1)	1						GGTGAAAATCCGTAGTGGGAA	0.453													41	103					0	0	0.006230	0	0
NPFFR1	64106	broad.mit.edu	37	10	72025858	72025858	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:72025858G>A	uc010qjk.1	-	1	297	c.291C>T	c.(289-291)ACC>ACT	p.T97T		NM_022146	NP_071429	Q9GZQ6	NPFF1_HUMAN	neuropeptide FF receptor 1	99	Helical; Name=2; (Potential).					integral to membrane|plasma membrane	neuropeptide receptor activity				0						CCACAAGGGTGGTGGGCATGC	0.542													15	48					0	0	0.004990	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72517946	72517946	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:72517946C>T	uc001jrh.2	+	21	3083	c.3083C>T	c.(3082-3084)TCC>TTC	p.S1028F	ADAMTS14_uc001jrg.2_Missense_Mutation_p.S1031F	NM_080722	NP_542453	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1028					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|upper_aerodigestive_tract(1)	6						CACCAGAACTCCACGGTGAGG	0.542													14	20					0	0	0.006122	0	0
SYNPO2L	79933	broad.mit.edu	37	10	75406540	75406540	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:75406540C>T	uc001jut.3	-	4	3022	c.2870G>A	c.(2869-2871)CGA>CAA	p.R957Q	SYNPO2L_uc001jus.3_Missense_Mutation_p.R733Q	NM_001114133	NP_001107605	Q9H987	SYP2L_HUMAN	synaptopodin 2-like isoform a	957						cytoplasm|cytoskeleton	actin binding			ovary(1)	1	Prostate(51;0.0112)					GGCTGAAAATCGGGGCCTGGC	0.642													23	73					0	0	0.003330	0	0
PLAU	5328	broad.mit.edu	37	10	75673753	75673753	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:75673753G>A	uc001jwa.2	+	8	842	c.696G>A	c.(694-696)AAG>AAA	p.K232K	C10orf55_uc001jvz.1_Intron|PLAU_uc010qkw.1_Silent_p.K215K|PLAU_uc010qkx.1_Silent_p.K146K|PLAU_uc001jwb.2_RNA|PLAU_uc001jwc.2_Silent_p.K232K|PLAU_uc009xrq.1_Silent_p.K196K	NM_002658	NP_002649	P00749	UROK_HUMAN	plasminogen activator, urokinase isoform 1	232	Peptidase S1.				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity			ovary(2)|kidney(1)	3	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	ACCCAAAGAAGGAGGACTACA	0.493													15	46					0	0	0.006122	0	0
ZNF503	84858	broad.mit.edu	37	10	77158601	77158601	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:77158601G>A	uc001jxg.2	-	2	2183	c.1847C>T	c.(1846-1848)CCC>CTC	p.P616L	C10orf41_uc010qlf.1_5'Flank	NM_032772	NP_116161	Q96F45	ZN503_HUMAN	zinc finger protein 503	616					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					CACCGGCACGGGGGCGCCAGG	0.687													4	7					0	0	0.000602	0	0
DLG5	9231	broad.mit.edu	37	10	79566545	79566545	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:79566545G>A	uc001jzk.2	-	26	5008	c.4938C>T	c.(4936-4938)ATC>ATT	p.I1646I	DLG5_uc001jzi.2_Silent_p.I401I|DLG5_uc001jzj.2_Silent_p.I1061I|DLG5_uc009xru.1_RNA	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	discs large homolog 5	1646	SH3.				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)			GCCCGCGCTGGATCTTCTGGG	0.617													22	34					0	0	0.002299	0	0
MAT1A	4143	broad.mit.edu	37	10	82039992	82039992	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:82039992G>A	uc001kbw.2	-	5	741	c.486C>T	c.(484-486)GCC>GCT	p.A162A		NM_000429	NP_000420	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	162					methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity				0			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	CTGCCATCCGGGCGTTGAGCT	0.607													22	47					0	0	0.002299	0	0
MAT1A	4143	broad.mit.edu	37	10	82043777	82043777	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:82043777C>G	uc001kbw.2	-	3	442	c.187G>C	c.(187-189)GGC>CGC	p.G63R		NM_000429	NP_000420	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	63					methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity				0			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	AGCACCATGCCGGTCTTGCAC	0.577													6	14					0	0	0.001168	0	0
CDHR1	92211	broad.mit.edu	37	10	85961648	85961648	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:85961648G>A	uc001kcv.2	+	7	611	c.611G>A	c.(610-612)CGG>CAG	p.R204Q	CDHR1_uc001kcw.2_Missense_Mutation_p.R204Q|CDHR1_uc009xst.2_5'UTR	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	protocadherin 21 precursor	204	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion		calcium ion binding|receptor activity			ovary(1)	1						GAGAGGTCCCGGACCCACTAC	0.592													4	14					0	0	0.000602	0	0
LRIT2	340745	broad.mit.edu	37	10	85984339	85984339	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:85984339A>T	uc001kcy.2	-	2	650	c.642T>A	c.(640-642)TTT>TTA	p.F214L	LRIT2_uc010qmc.1_Missense_Mutation_p.F214L	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN	leucine rich repeat containing 22 precursor	214	LRRCT.					integral to membrane				ovary(2)	2						TGGACTTGACAAACTGGACAA	0.552													13	42					0	0	0.002450	0	0
RGR	5995	broad.mit.edu	37	10	86012759	86012759	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:86012759G>A	uc001kdc.1	+	4	543	c.505G>A	c.(505-507)GGG>AGG	p.G169R	RGR_uc001kdd.1_Missense_Mutation_p.G173R|RGR_uc001kde.1_Missense_Mutation_p.G169R	NM_001012720	NP_001012738	P47804	RGR_HUMAN	retinal G-protein coupled receptor isoform 2	169	Extracellular (Potential).				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding			ovary(1)	1						CTACTCCAAGGGGGACAGGTG	0.572													8	13					0	0	0.008291	0	0
FAM190B	54462	broad.mit.edu	37	10	86132173	86132173	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:86132173A>T	uc001kdh.1	+	2	1559	c.1365A>T	c.(1363-1365)GAA>GAT	p.E455D	FAM190B_uc001kdg.1_Missense_Mutation_p.E455D|FAM190B_uc010qmd.1_Missense_Mutation_p.E455D	NM_018999	NP_061872	Q9H7U1	F190B_HUMAN	granule cell antiserum positive 14	455										ovary(3)|skin(1)	4						CCCCCAAGGAAAATGAAAAAG	0.333													39	132					0	0	0.003610	0	0
AGAP11	119385	broad.mit.edu	37	10	88769011	88769011	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:88769011C>T	uc001kee.2	+	12	2206	c.1002C>T	c.(1000-1002)ATC>ATT	p.I334I	AGAP11_uc001kef.2_Intron	NM_133447	NP_597704	Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase	334	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding				0						TGCAGTCGATCCAAAACATGC	0.552													65	113					0	0	0.003610	0	0
FAM35A	54537	broad.mit.edu	37	10	88946957	88946957	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:88946957G>A	uc001kei.3	+	8	2422	c.2308G>A	c.(2308-2310)GTT>ATT	p.V770I	FAM35A_uc001kej.3_Missense_Mutation_p.V216I	NM_019054	NP_061927	Q86V20	FA35A_HUMAN	hypothetical protein LOC54537	770										ovary(2)|skin(2)	4						CAGAGTGATAGGTAATATATC	0.368													8	24					0	0	0.008291	0	0
FAM22A	728118	broad.mit.edu	37	10	88988218	88988218	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:88988218G>A	uc001kek.2	+	2	964	c.581G>A	c.(580-582)GGC>GAC	p.G194D	LOC728190_uc009xtc.2_Intron|LOC728190_uc009xtd.2_Intron	NM_001099338	NP_001092808	Q8IVF1	FA22A_HUMAN	hypothetical protein LOC728118	194											0						GATGGCTGCGGCCCGAGTGGG	0.662													11	67					0	0	0.007413	0	0
LIPF	8513	broad.mit.edu	37	10	90428403	90428403	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:90428403C>T	uc001kfg.1	+	4	478	c.312C>T	c.(310-312)TTC>TTT	p.F104F	LIPF_uc009xtk.2_Silent_p.F104F|LIPF_uc001kfh.1_Intron|LIPF_uc010qmt.1_Silent_p.F114F|LIPF_uc010qmu.1_Intron	NM_004190	NP_004181	P07098	LIPG_HUMAN	lipase, gastric precursor	104					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity				0		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		GCCTTGCCTTCATTCTGGCAG	0.473													16	45					0	0	0.004007	0	0
LIPK	643414	broad.mit.edu	37	10	90503072	90503072	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:90503072C>T	uc010qmv.1	+	8	954	c.954C>T	c.(952-954)TTC>TTT	p.F318F		NM_001080518	NP_001073987	Q5VXJ0	LIPK_HUMAN	lipase, family member K precursor	318					lipid catabolic process	extracellular region	hydrolase activity			ovary(2)	2		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		TGATGCACTTCCATCAGGTAC	0.358													5	15					0	0	0.001984	0	0
STAMBPL1	57559	broad.mit.edu	37	10	90665351	90665351	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:90665351T>G	uc001kfk.2	+	3	605	c.182T>G	c.(181-183)ATG>AGG	p.M61R	STAMBPL1_uc010qmx.1_Missense_Mutation_p.M61R|STAMBPL1_uc009xto.2_RNA|STAMBPL1_uc001kfl.2_Missense_Mutation_p.M61R|STAMBPL1_uc001kfm.2_5'Flank	NM_020799	NP_065850	Q96FJ0	STALP_HUMAN	STAM binding protein-like 1	61							metal ion binding|metallopeptidase activity|protein binding			ovary(1)	1		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		ATGGAGAGGATGGCGTCTGTG	0.403													25	67					0	0	0.006320	0	0
HTR7	3363	broad.mit.edu	37	10	92509249	92509249	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:92509249G>A	uc001kha.2	-	2	885	c.642C>T	c.(640-642)ACC>ACT	p.T214T	HTR7_uc001kgz.2_Silent_p.T214T|HTR7_uc001khb.2_Silent_p.T214T	NM_019859	NP_062873	P34969	5HT7R_HUMAN	5-hydroxytryptamine receptor 7 isoform d	214	Helical; Name=4; (By similarity).				blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			ovary(1)	1					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	GTGGAGGTAAGGTGATGGAGG	0.502													39	59					0	0	0.004289	0	0
BTAF1	9044	broad.mit.edu	37	10	93751878	93751879	+	Missense_Mutation	DNP	TC	GG	GG			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:93751878_93751879TC>GG	uc001khr.2	+	21	2955_2956	c.2857_2858TC>GG	c.(2857-2859)TCC>GGC	p.S953G	BTAF1_uc001kht.1_Missense_Mutation_p.S391G	NM_003972	NP_003963	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription	953					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.0846)				CTTATTAGGATCCACCTCAGAA	0.351													3	31					0	0	0.004672	0	0
PDE6C	5146	broad.mit.edu	37	10	95405749	95405749	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:95405749C>T	uc001kiu.3	+	15	2018	c.1880C>T	c.(1879-1881)TCT>TTT	p.S627F		NM_006204	NP_006195	P51160	PDE6C_HUMAN	phosphodiesterase 6C	627					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			ovary(2)|kidney(1)|skin(1)	4		Colorectal(252;0.123)				CTTCATGGTTCTTCTATTTTG	0.408													25	43					0	0	0.002445	0	0
CYP2C18	1562	broad.mit.edu	37	10	96454696	96454696	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:96454696C>T	uc001kjv.3	+	4	830	c.504C>T	c.(502-504)TTC>TTT	p.F168F	CYP2C18_uc001kjw.3_Silent_p.F168F|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.1_5'UTR	NM_000772	NP_000763	P33260	CP2CI_HUMAN	cytochrome P450 family 2 subfamily C polypeptide	168					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(3)|lung(1)|skin(1)	5		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		ATCCCACTTTCATCCTGGGCT	0.333													25	92					0	0	0.002445	0	0
CYP2C19	1557	broad.mit.edu	37	10	96535171	96535171	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:96535171G>A	uc010qnz.1	+	3	356	c.356G>A	c.(355-357)AGA>AAA	p.R119K	CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.1_Missense_Mutation_p.R97K	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C,	119					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			ovary(4)|central_nervous_system(1)|skin(1)	6		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	AATGGAAAGAGATGGAAGGAG	0.527													13	46					0	0	0.002450	0	0
CYP2C9	1559	broad.mit.edu	37	10	96740948	96740948	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:96740948C>T	uc001kka.3	+	7	995	c.970C>T	c.(970-972)CAG>TAG	p.Q324*	CYP2C9_uc009xut.2_Nonsense_Mutation_p.Q322*	NM_000771	NP_000762	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C,	324					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			skin(4)|ovary(2)	6		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	AGCTAAAGTCCAGGAAGAGAT	0.463													24	70					0	0	0.005443	0	0
CC2D2B	387707	broad.mit.edu	37	10	97779559	97779559	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:97779559G>A	uc001kll.2	+	8	957	c.758G>A	c.(757-759)GGA>GAA	p.G253E	uc001klg.1_Intron|uc001klj.1_Intron|CC2D2B_uc001klk.2_Intron|CC2D2B_uc010qop.1_Missense_Mutation_p.G253E|uc009xvb.1_RNA	NM_001001732	NP_001001732	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B isoform	253										ovary(1)	1		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		AACGTTCAAGGAACAAAAATA	0.338													26	94					0	0	0.005443	0	0
TLL2	7093	broad.mit.edu	37	10	98164993	98164993	+	Silent	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:98164993A>T	uc001kml.1	-	10	1489	c.1263T>A	c.(1261-1263)CTT>CTA	p.L421L	TLL2_uc009xvf.1_Silent_p.L399L	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	tolloid-like 2 precursor	421	CUB 1.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		ACTTACCCAAAAGGGGGGCTT	0.483													46	76					0	0	0.003610	0	0
TLL2	7093	broad.mit.edu	37	10	98188497	98188497	+	Silent	SNP	T	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:98188497T>G	uc001kml.1	-	5	755	c.529A>C	c.(529-531)AGG>CGG	p.R177R	TLL2_uc009xvf.1_Silent_p.R125R	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	tolloid-like 2 precursor	177	Metalloprotease (By similarity).				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		AAAATGGCCCTCTGGCTCCCT	0.383													11	28					0	0	0.000978	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98380283	98380283	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:98380283G>A	uc001kmq.2	-	12	1895	c.1767C>T	c.(1765-1767)CCC>CCT	p.P589P	PIK3AP1_uc001kmo.2_Silent_p.P188P|PIK3AP1_uc001kmp.2_Silent_p.P411P	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	589						cytoplasm|plasma membrane				upper_aerodigestive_tract(3)|ovary(1)|skin(1)	5		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		TACTCGACTGGGGCCTGTCCC	0.582													15	18					0	0	0.003163	0	0
LOXL4	84171	broad.mit.edu	37	10	100012154	100012155	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:100012154_100012155CC>TT	uc001kpa.1	-	12	2057_2058	c.1906_1907GG>AA	c.(1906-1908)GGG>AAG	p.G636K		NM_032211	NP_115587	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4 precursor	636	Lysyl-oxidase like.					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity			ovary(3)|breast(1)|skin(1)	5		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		GGCCTTGTGCCCCTCAGCCACC	0.545													39	94					0	0	0.004672	0	0
LOXL4	84171	broad.mit.edu	37	10	100017523	100017523	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:100017523C>T	uc001kpa.1	-	8	1295	c.1144G>A	c.(1144-1146)GGA>AGA	p.G382R		NM_032211	NP_115587	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4 precursor	382	SRCR 3.					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity			ovary(3)|breast(1)|skin(1)	5		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		CGCTCATATCCCCTGCAGCGC	0.587													17	42					0	0	0.007413	0	0
GOT1	2805	broad.mit.edu	37	10	101163320	101163320	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:101163320C>T	uc001kpr.2	-	7	1073	c.865G>A	c.(865-867)GAG>AAG	p.E289K	GOT1_uc009xwh.2_RNA|GOT1_uc001kpq.1_Missense_Mutation_p.E2K	NM_002079	NP_002070	P17174	AATC_HUMAN	aspartate aminotransferase 1	289					aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding				0		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	ACGATCTTCTCCATCTGGGAA	0.532													32	57					0	0	0.002836	0	0
WNT8B	7479	broad.mit.edu	37	10	102239754	102239754	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:102239754G>A	uc001krb.2	+	3	340	c.226G>A	c.(226-228)GGT>AGT	p.G76S		NM_003393	NP_003384	Q93098	WNT8B_HUMAN	wingless-type MMTV integration site family,	76					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			ovary(1)|breast(1)|large_intestine(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		GTCCAGCCATGGTGGGCTTCG	0.592													9	26					0	0	0.004482	0	0
NFKB2	4791	broad.mit.edu	37	10	104161508	104161508	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:104161508G>C	uc001kvb.2	+	21	2565	c.2300G>C	c.(2299-2301)GGA>GCA	p.G767A	NFKB2_uc001kva.2_Missense_Mutation_p.G767A|NFKB2_uc001kvd.2_Missense_Mutation_p.G767A|NFKB2_uc009xxc.2_Missense_Mutation_p.G767A	NM_001077494	NP_001070962	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene	767	Death.		Missing (in truncated form p80HT).|Missing (in truncated form LB40).|Missing (in truncated form EB308).		innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			lung(3)	3		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		TAAGGGCCGGGACTGTCACTT	0.592			T	IGH@	B-NHL								7	32					0	0	0.001984	0	0
COL17A1	1308	broad.mit.edu	37	10	105798832	105798832	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:105798832C>T	uc001kxr.2	-	44	3113	c.2944G>A	c.(2944-2946)GAA>AAA	p.E982K		NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	alpha 1 type XVII collagen	982	Extracellular (Potential).|Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			ovary(4)|pancreas(1)	5		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TTCTTACCTTCAGAAGGACCA	0.408													15	35					0	0	0.006122	0	0
CCDC147	159686	broad.mit.edu	37	10	106139928	106139928	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:106139928G>A	uc001kyh.2	+	9	1449	c.1315G>A	c.(1315-1317)GAA>AAA	p.E439K		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	439	Potential.									ovary(2)|central_nervous_system(2)|skin(1)	5		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		CTTTCATCTGGAAAAGGAGCG	0.493													25	67					0	0	0.008361	0	0
SORCS3	22986	broad.mit.edu	37	10	106960951	106960951	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:106960951G>A	uc001kyi.1	+	16	2428	c.2201G>A	c.(2200-2202)CGA>CAA	p.R734Q	SORCS3_uc010qqz.1_RNA	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	734	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|skin(3)|central_nervous_system(1)	10		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GCCCTGGGCCGAGACCACTCA	0.488													23	50					0	0	0.003954	0	0
SORCS3	22986	broad.mit.edu	37	10	107022168	107022168	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:107022168G>A	uc001kyi.1	+	26	3750	c.3523G>A	c.(3523-3525)GAA>AAA	p.E1175K		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	1175	Cytoplasmic (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|skin(3)|central_nervous_system(1)	10		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GAGCCAAAGTGAAAACGCCCC	0.507													8	29					0	0	0.003080	0	0
XPNPEP1	7511	broad.mit.edu	37	10	111635351	111635351	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:111635351G>A	uc001kyp.1	-	15	1337	c.1197C>T	c.(1195-1197)GTC>GTT	p.V399V	XPNPEP1_uc009xxt.1_Intron|XPNPEP1_uc001kyq.1_Silent_p.V328V|XPNPEP1_uc010qrb.1_3'UTR|XPNPEP1_uc010qra.1_3'UTR	NM_020383	NP_065116	Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1,	399					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity			ovary(3)|pancreas(1)	4		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		TCGTCTCAGGGACTGGCCTAA	0.289													11	20					0	0	0.001368	0	0
ADD3	120	broad.mit.edu	37	10	111881987	111881987	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:111881987C>T	uc001kyt.3	+	10	1394	c.1080C>T	c.(1078-1080)TCC>TCT	p.S360S	ADD3_uc001kys.3_Silent_p.S360S|ADD3_uc001kyu.2_Silent_p.S360S|ADD3_uc001kyv.2_Silent_p.S360S|ADD3_uc001kyw.2_Silent_p.S360S|ADD3_uc001kyx.2_5'Flank	NM_016824	NP_058432	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma) isoform a	360						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			ovary(2)|skin(2)|large_intestine(1)	5		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		ATATGGGTTCCCATCAAAAAT	0.423													22	47					0	0	0.002780	0	0
TECTB	6975	broad.mit.edu	37	10	114044339	114044339	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:114044339C>T	uc001kzr.1	+	2	123	c.123C>T	c.(121-123)ATC>ATT	p.I41I		NM_058222	NP_478129	Q96PL2	TECTB_HUMAN	tectorin beta precursor	41	ZP.					anchored to membrane|plasma membrane|proteinaceous extracellular matrix					0		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		TCACCAAAATCCCCGAGTGTC	0.453													15	43					0	0	0.008871	0	0
TCF7L2	6934	broad.mit.edu	37	10	114901043	114901043	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:114901043C>T	uc001lae.3	+	6	1160	c.653C>T	c.(652-654)CCA>CTA	p.P218L	TCF7L2_uc001lac.3_Missense_Mutation_p.P195L|TCF7L2_uc010qrk.1_Missense_Mutation_p.P195L|TCF7L2_uc010qrl.1_Missense_Mutation_p.P195L|TCF7L2_uc010qrm.1_Missense_Mutation_p.P218L|TCF7L2_uc010qrn.1_Missense_Mutation_p.P161L|TCF7L2_uc001lad.3_Missense_Mutation_p.P195L|TCF7L2_uc001lag.3_Missense_Mutation_p.P242L|TCF7L2_uc001laf.3_Missense_Mutation_p.P195L|TCF7L2_uc010qro.1_Missense_Mutation_p.P195L|TCF7L2_uc001lah.2_Missense_Mutation_p.P195L|TCF7L2_uc010qrp.1_Missense_Mutation_p.P195L|TCF7L2_uc010qrq.1_Missense_Mutation_p.P195L|TCF7L2_uc010qrr.1_Missense_Mutation_p.P137L|TCF7L2_uc010qrs.1_Missense_Mutation_p.P89L|TCF7L2_uc010qrt.1_Missense_Mutation_p.P89L|TCF7L2_uc010qru.1_Missense_Mutation_p.P112L|TCF7L2_uc010qrv.1_Missense_Mutation_p.P35L|TCF7L2_uc010qrw.1_5'UTR|TCF7L2_uc010qrx.1_Missense_Mutation_p.P75L	NM_001146274	NP_001139746	Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 isoform 1	218	Mediates interaction with MAD2L2.|Pro-rich.				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			large_intestine(3)|ovary(1)	4		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		AACCCACCTCCACACTTACCA	0.577													36	88					0	0	0.006230	0	0
ATE1	11101	broad.mit.edu	37	10	123600677	123600677	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:123600677G>A	uc001lfp.2	-	9	1159	c.1077C>T	c.(1075-1077)CTC>CTT	p.L359L	ATE1_uc001lfq.2_Silent_p.L359L|ATE1_uc010qtr.1_Silent_p.L244L|ATE1_uc010qts.1_Silent_p.L263L|ATE1_uc010qtt.1_Silent_p.L352L|ATE1_uc001lfr.2_Silent_p.L60L|ATE1_uc009xzu.2_RNA	NM_007041	NP_008972	O95260	ATE1_HUMAN	arginyltransferase 1 isoform 2	359					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity				0		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				CACAGTTTGGGAGGATGTCAA	0.473													12	13					0	0	0.001368	0	0
DMBT1	1755	broad.mit.edu	37	10	124389817	124389817	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:124389817C>T	uc001lgk.1	+	45	5555	c.5449C>T	c.(5449-5451)CAT>TAT	p.H1817Y	DMBT1_uc001lgl.1_Missense_Mutation_p.H1807Y|DMBT1_uc001lgm.1_Missense_Mutation_p.H1189Y|DMBT1_uc009xzz.1_Missense_Mutation_p.H1817Y|DMBT1_uc010qtx.1_Missense_Mutation_p.H537Y|DMBT1_uc009yab.1_Missense_Mutation_p.H520Y|DMBT1_uc009yac.1_Missense_Mutation_p.H111Y	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	1817	CUB 1.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGAGGCACACCATAACTGCAG	0.373													18	39					0	0	0.007413	0	0
CUZD1	50624	broad.mit.edu	37	10	124594230	124594230	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:124594230G>A	uc001lgq.2	-	7	1706	c.1374C>T	c.(1372-1374)ATC>ATT	p.I458I	CUZD1_uc001lgp.2_Silent_p.I177I|CUZD1_uc009yad.2_Silent_p.I177I|CUZD1_uc009yaf.2_Silent_p.I92I|CUZD1_uc001lgr.2_Silent_p.I177I|CUZD1_uc010qty.1_Silent_p.I177I|CUZD1_uc009yae.2_Silent_p.I177I|CUZD1_uc001lgs.2_Silent_p.I458I|CUZD1_uc010qtz.1_Silent_p.I458I	NM_022034	NP_071317	Q86UP6	CUZD1_HUMAN	CUB and zona pellucida-like domains 1 precursor	458	Extracellular (Potential).|ZP.				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				ovary(1)|skin(1)	2		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		ACCCACTCTTGATTAGGTCGT	0.363													14	31					0	0	0.004007	0	0
CUZD1	50624	broad.mit.edu	37	10	124596416	124596417	+	Missense_Mutation	DNP	CT	TG	TG			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:124596416_124596417CT>TG	uc001lgq.2	-	5	1079_1080	c.747_748AG>CA	c.(745-750)ACAGAT>ACCAAT	p.D250N	CUZD1_uc001lgp.2_5'UTR|CUZD1_uc009yad.2_5'UTR|CUZD1_uc009yaf.2_Intron|CUZD1_uc001lgr.2_5'UTR|CUZD1_uc010qty.1_Splice_Site|CUZD1_uc009yae.2_Splice_Site|CUZD1_uc001lgs.2_Missense_Mutation_p.D250N|CUZD1_uc010qtz.1_Missense_Mutation_p.D250N	NM_022034	NP_071317	Q86UP6	CUZD1_HUMAN	CUB and zona pellucida-like domains 1 precursor	250	Extracellular (Potential).|CUB 2.				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				ovary(1)|skin(1)	2		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		TTGGCATAATCTGTAGACAACA	0.436													25	50					0	0	0.004672	0	0
GPR26	2849	broad.mit.edu	37	10	125447638	125447638	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:125447638G>A	uc001lhh.2	+	3	1029	c.976G>A	c.(976-978)GAC>AAC	p.D326N		NM_153442	NP_703143	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	326	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			skin(1)	1		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				CCTCACAGGCGACTCTCACAG	0.567													9	23					0	0	0.008291	0	0
DOCK1	1793	broad.mit.edu	37	10	128807059	128807059	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:128807059C>T	uc001ljt.2	+	11	1113	c.1049C>T	c.(1048-1050)CCC>CTC	p.P350L	DOCK1_uc010qun.1_Missense_Mutation_p.P350L	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	350					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CATTTCATTCCCTTTCAGCCG	0.318													4	14					0	0	0.000248	0	0
EBF3	253738	broad.mit.edu	37	10	131666094	131666094	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:131666094G>A	uc001lki.1	-	9	896	c.837C>T	c.(835-837)TTC>TTT	p.F279F		NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	early B-cell factor 3	288	IPT/TIG.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|pancreas(1)	2		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GCCCGTCAAAGAAGTTGTCGC	0.557													13	27					0	0	0.001368	0	0
JAKMIP3	282973	broad.mit.edu	37	10	133967453	133967453	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:133967453G>A	uc001lkx.3	+	18	2173	c.2173G>A	c.(2173-2175)GAG>AAG	p.E725K	JAKMIP3_uc009yba.1_Missense_Mutation_p.E162K	NM_001105521	NP_001098991			Janus kinase and microtubule interacting protein											breast(1)	1		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CCTGGACGAGGAGCTGGACTA	0.627													16	36					0	0	0.004990	0	0
CYP2E1	1571	broad.mit.edu	37	10	135345089	135345089	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:135345089G>A	uc001lnj.1	+	3	371	c.338G>A	c.(337-339)GGA>GAA	p.G113E	CYP2E1_uc001lnk.1_5'UTR|CYP2E1_uc009ybl.1_Intron|CYP2E1_uc009ybm.1_5'UTR|CYP2E1_uc001lnl.1_5'UTR	NM_000773	NP_000764	P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E,	113					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			central_nervous_system(3)	3		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	TCTGCCTTAGGAATCATTTTT	0.517									Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of				24	99					0	0	0.003954	0	0
NLRP6	171389	broad.mit.edu	37	11	284312	284312	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:284312G>A	uc010qvs.1	+	6	2284	c.2284G>A	c.(2284-2286)GGC>AGC	p.G762S	NLRP6_uc010qvt.1_Missense_Mutation_p.G761S	NM_138329	NP_612202	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	762	LRR 3.					cytoplasm	ATP binding			upper_aerodigestive_tract(1)|skin(1)	2		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GACGGAGCTGGGCCTCCTCCA	0.657													9	28					0	0	0.006214	0	0
ATHL1	80162	broad.mit.edu	37	11	293452	293452	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:293452C>T	uc010qvu.1	+	9	1545	c.1430C>T	c.(1429-1431)CCC>CTC	p.P477L	ATHL1_uc001lor.3_Intron|ATHL1_uc001los.1_Missense_Mutation_p.P504L|ATHL1_uc001lou.3_Missense_Mutation_p.P52L|ATHL1_uc001lov.3_5'Flank	NM_025092	NP_079368	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1	477					carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds			liver(1)|central_nervous_system(1)|skin(1)	3		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		ATCAAGGTACCCTTTGACGTG	0.632													13	31					0	0	0.001855	0	0
B4GALNT4	338707	broad.mit.edu	37	11	372752	372752	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:372752G>A	uc001lpb.2	+	3	355	c.346G>A	c.(346-348)GAG>AAG	p.E116K		NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN	beta	116	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			pancreas(1)	1		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ATGGCGGGAGGAGGTGAGCTG	0.537													8	17					0	0	0.004482	0	0
PDDC1	347862	broad.mit.edu	37	11	774085	774085	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:774085G>A	uc001lrc.2	-	3	195	c.170C>T	c.(169-171)ACT>ATT	p.T57I	PDDC1_uc010qwm.1_Missense_Mutation_p.T7I|PDDC1_uc001lrd.2_Missense_Mutation_p.T57I|PDDC1_uc001lrf.1_Missense_Mutation_p.T57I|PDDC1_uc001lrg.1_RNA|PDDC1_uc009ycg.2_Missense_Mutation_p.T7I|PDDC1_uc010qwn.1_RNA|PDDC1_uc010qwo.1_RNA|PDDC1_uc010qwp.1_Missense_Mutation_p.T57I|PDDC1_uc010qwq.1_Missense_Mutation_p.T7I|PDDC1_uc010qwr.1_Missense_Mutation_p.T57I|PDDC1_uc010qws.1_Missense_Mutation_p.T7I	NM_182612	NP_872418	Q8NB37	PDDC1_HUMAN	Parkinson disease 7 domain containing 1	57						extracellular region					0		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ATTGCTCTCAGTCACATCCAC	0.612													12	31					0	0	0.000978	0	0
MUC6	4588	broad.mit.edu	37	11	1018215	1018215	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:1018215G>T	uc001lsw.2	-	31	4637	c.4586C>A	c.(4585-4587)ACT>AAT	p.T1529N		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	1529	Pro-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGTGGAGGAAGTGTGTGAATG	0.552													66	120					3.00472e-47	3.94929e-47	0.003610	1	0
MUC2	4583	broad.mit.edu	37	11	1080907	1080907	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:1080907G>A	uc001lsx.1	+	10	1318	c.1291G>A	c.(1291-1293)GAG>AAG	p.E431K		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	431	VWFD 2.					inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		all_cancers(49;1.08e-07)|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;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TCTCCTGGGCGAGCTGGCCCC	0.632													18	47					0	0	0.002780	0	0
MUC5B	727897	broad.mit.edu	37	11	1258301	1258301	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:1258301G>A	uc009ycr.1	+	41	5409	c.5283G>A	c.(5281-5283)AAG>AAA	p.K1761K	MUC5B_uc009yct.1_Silent_p.K1068K|MUC5B_uc001ltb.2_Silent_p.K1071K|MUC5B_uc001lta.2_Silent_p.K736K	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	1068	VWFD 3.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TGGCACCCAAGGACCCCTGCA	0.692													9	29					0	0	0.008291	0	0
KRTAP5-5	439915	broad.mit.edu	37	11	1651510	1651510	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:1651510G>A	uc001lty.2	+	1	478	c.440G>A	c.(439-441)GGG>GAG	p.G147E		NM_001001480	NP_001001480	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	147	8 X 4 AA repeats of C-C-X-P.					keratin filament				lung(1)	1		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGGTCCAAGGGGGGCTGTGGT	0.677													21	37					0	0	0.006320	0	0
H19	283120	broad.mit.edu	37	11	2017117	2017117	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:2017117G>A	uc001lvc.1	-	4	1674	c.1056C>T	c.(1054-1056)ATC>ATT	p.I352I	H19_uc001luz.1_Intron|H19_uc001lva.3_RNA|H19_uc001lvd.2_RNA|H19_uc001lve.2_RNA|H19_uc001lvb.1_RNA					SubName: Full=cDNA FLJ32212 fis, clone PLACE6003399, weakly similar to SPIDROIN 1;												0						TTCCAGAGCCGATTCCTGAGT	0.577									Beckwith-Wiedemann_syndrome				24	37					0	0	0.003954	0	0
TRPM5	29850	broad.mit.edu	37	11	2441489	2441489	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:2441489C>T	uc001lwm.3	-	4	621	c.612G>A	c.(610-612)CTG>CTA	p.L204L	TRPM5_uc010qxl.1_Silent_p.L204L|TRPM5_uc009ydn.2_Silent_p.L206L	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel,	204	Cytoplasmic (Potential).					integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		TGTGCTTCTCCAGCCTCAGCC	0.692													55	117					0	0	0.003610	0	0
TRPM5	29850	broad.mit.edu	37	11	2441525	2441525	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:2441525C>T	uc001lwm.3	-	4	585	c.576G>A	c.(574-576)GGG>GGA	p.G192G	TRPM5_uc010qxl.1_Silent_p.G192G|TRPM5_uc009ydn.2_Silent_p.G194G	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel,	192	Cytoplasmic (Potential).					integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CATCGCCCTTCCCCGGGGGGC	0.687													72	156					0	0	0.003610	0	0
KCNQ1	3784	broad.mit.edu	37	11	2608862	2608862	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:2608862G>A	uc001lwn.2	+	9	1299	c.1191G>A	c.(1189-1191)CGG>CGA	p.R397R	KCNQ1_uc009ydp.1_Silent_p.R181R|KCNQ1_uc001lwo.2_Silent_p.R270R	NM_000218	NP_000209	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like	397	Cytoplasmic (Potential).				blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			ovary(1)	1		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	TCTACATCCGGAAGGCCCCCC	0.637													76	184					0	0	0.003610	0	0
NUP98	4928	broad.mit.edu	37	11	3752715	3752715	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:3752715T>C	uc001lyh.2	-	14	1927	c.1636A>G	c.(1636-1638)AAG>GAG	p.K546E	NUP98_uc001lyi.2_Missense_Mutation_p.K546E|NUP98_uc001lyj.1_Missense_Mutation_p.K546E|NUP98_uc001lyk.1_Missense_Mutation_p.K563E	NM_016320	NP_057404	P52948	NUP98_HUMAN	nucleoporin 98kD isoform 1	563					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		TGTAAAGCCTTTGGCCGGACT	0.488			T	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11	AML								58	126					0	0	0.003610	0	0
STIM1	6786	broad.mit.edu	37	11	4095774	4095774	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:4095774G>A	uc001lyv.2	+	7	1402	c.834G>A	c.(832-834)GAG>GAA	p.E278E	STIM1_uc009yef.2_Silent_p.E278E|STIM1_uc009yeg.2_Silent_p.E105E	NM_003156	NP_003147	Q13586	STIM1_HUMAN	stromal interaction molecule 1 precursor	278	Cytoplasmic (Potential).|Glu-rich.|Potential.				activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding			pancreas(1)	1		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		TGGAGGTGGAGAAGGTCCATC	0.622													11	23					0	0	0.001368	0	0
OR51E2	81285	broad.mit.edu	37	11	4703274	4703274	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:4703274G>A	uc001lzk.2	-	2	912	c.668C>T	c.(667-669)ACG>ATG	p.T223M		NM_030774	NP_110401	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E,	223	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			lung(3)|ovary(2)	5		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		TTGCAGAACCGTTCGTATTAT	0.493													19	53					0	0	0.008871	0	0
OR51A2	401667	broad.mit.edu	37	11	4976459	4976459	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:4976459G>A	uc010qyt.1	-	1	485	c.485C>T	c.(484-486)CCT>CTT	p.P162L		NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A,	162	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TAAAGTGAAAGGGAAGGGAAG	0.433													34	195					0	0	0.004878	0	0
OR52J3	119679	broad.mit.edu	37	11	5068607	5068607	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:5068607C>T	uc010qyv.1	+	1	852	c.852C>T	c.(850-852)ATC>ATT	p.I284I		NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J,	284	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|lung(1)|skin(1)	3		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATTTGATTATCCCACCCTCTC	0.383													28	55					0	0	0.007291	0	0
OR51B2	79345	broad.mit.edu	37	11	5345020	5345020	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:5345020G>A	uc001mao.1	-	1	563	c.508C>T	c.(508-510)CAT>TAT	p.H170Y	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B,	170	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGATAACATGAGATTTGCAA	0.388													16	42					0	0	0.003163	0	0
OR52H1	390067	broad.mit.edu	37	11	5566205	5566205	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:5566205G>A	uc010qzh.1	-	1	549	c.549C>T	c.(547-549)CCC>CCT	p.P183P	HBG2_uc001mak.1_Intron	NM_001005289	NP_001005289	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H,	183	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGTATGTGTGGGGTATGATGC	0.493													17	31					0	0	0.006122	0	0
OR52N5	390075	broad.mit.edu	37	11	5799030	5799030	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:5799030G>A	uc010qzn.1	-	1	835	c.835C>T	c.(835-837)CCC>TCC	p.P279S	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	NM_001001922	NP_001001922	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N,	279	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		AGAGAAGGGGGAATTGTGTGT	0.443													18	39					0	0	0.007413	0	0
OR52E6	390078	broad.mit.edu	37	11	5862608	5862608	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:5862608G>A	uc010qzq.1	-	1	520	c.520C>T	c.(520-522)CGT>TGT	p.R174C	TRIM5_uc001mbq.1_Intron	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E,	174	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGATGATACGATGTCCACAG	0.478													33	72					0	0	0.003271	0	0
OR52E8	390079	broad.mit.edu	37	11	5878024	5878024	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:5878024C>T	uc010qzr.1	-	1	909	c.909G>A	c.(907-909)CAG>CAA	p.Q303Q	TRIM5_uc001mbq.1_Intron	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E,	303	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTCTCGAATCTGCTTTGTCC	0.423													43	125					0	0	0.003610	0	0
OR52E8	390079	broad.mit.edu	37	11	5878411	5878411	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:5878411G>A	uc010qzr.1	-	1	522	c.522C>T	c.(520-522)TTC>TTT	p.F174F	TRIM5_uc001mbq.1_Intron	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E,	174	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GATGCCCACAGAAGGGCAGCC	0.517													42	78					0	0	0.002852	0	0
FAM160A2	84067	broad.mit.edu	37	11	6238931	6238931	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:6238931G>A	uc001mcl.3	-	9	2244	c.1885C>T	c.(1885-1887)CAC>TAC	p.H629Y	FAM160A2_uc001mck.3_Missense_Mutation_p.H643Y|FAM160A2_uc001mcm.2_Missense_Mutation_p.H629Y	NM_001098794	NP_001092264	Q8N612	F16A2_HUMAN	hypothetical protein LOC84067 isoform 2	629					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			skin(2)	2						GGGGGCAGGTGACCAGGGccc	0.378													6	10					0	0	0.001168	0	0
OR6A2	8590	broad.mit.edu	37	11	6816667	6816667	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:6816667C>T	uc001mes.1	-	1	473	c.273G>A	c.(271-273)CAG>CAA	p.Q91Q		NM_003696	NP_003687	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A,	91	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GTCCATGATCCTGTTTGGATC	0.458													19	38					0	0	0.001882	0	0
NLRP14	338323	broad.mit.edu	37	11	7063775	7063775	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:7063775G>A	uc001mfb.1	+	4	841	c.518G>A	c.(517-519)GGT>GAT	p.G173D		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	173					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GTCAAAACCGGTGCACAGCCA	0.473													27	57					0	0	0.007291	0	0
CYB5R2	51700	broad.mit.edu	37	11	7690543	7690543	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:7690543G>A	uc001mfm.2	-	5	519	c.281C>T	c.(280-282)CCC>CTC	p.P94L	CYB5R2_uc001mfn.2_RNA|CYB5R2_uc009yfk.2_Missense_Mutation_p.P94L|CYB5R2_uc009yfl.1_Missense_Mutation_p.P94L	NM_016229	NP_057313	Q6BCY4	NB5R2_HUMAN	cytochrome b5 reductase b5R.2	94	FAD-binding FR-type.				sterol biosynthetic process	membrane|soluble fraction	cytochrome-b5 reductase activity				0				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGGATATTGGGGGTGTACATT	0.443													31	73					0	0	0.003755	0	0
OVCH2	341277	broad.mit.edu	37	11	7723023	7723023	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:7723023C>T	uc010rbf.1	-	6	560	c.560_splice	c.e6-1	p.G187_splice		NM_198185	NP_937828			ovochymase 2 precursor												0				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		AGGACGCCACCTGAAAAACAG	0.473													3	6					0	0	0.000248	0	0
OVCH2	341277	broad.mit.edu	37	11	7726135	7726135	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:7726135C>T	uc010rbf.1	-	2	175	c.175G>A	c.(175-177)GAG>AAG	p.E59K		NM_198185	NP_937828			ovochymase 2 precursor												0				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		GAACCCTTCTCCACTTGGCTT	0.323													12	14					0	0	0.001855	0	0
EIF3F	8665	broad.mit.edu	37	11	8013684	8013684	+	Silent	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:8013684T>A	uc001mfw.2	+	3	522	c.489T>A	c.(487-489)GTT>GTA	p.V163V	EIF3F_uc010rbj.1_Silent_p.V14V	NM_003754	NP_003745	O00303	EIF3F_HUMAN	eukaryotic translation initiation factor 3,	163	MPN.					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			lung(1)	1				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ATAAAAAAGTTTCTCCAAATG	0.473													9	28					0	0	0.008291	0	0
SBF2	81846	broad.mit.edu	37	11	9838486	9838486	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:9838486C>T	uc001mib.2	-	29	4017	c.3879G>A	c.(3877-3879)AAG>AAA	p.K1293K	SBF2_uc001mid.2_5'UTR	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1293	Myotubularin phosphatase.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CCGAGTGATCCTTGCCTGCCA	0.512													27	45					0	0	0.005443	0	0
LYVE1	10894	broad.mit.edu	37	11	10582155	10582155	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:10582155T>A	uc001miv.2	-	4	876	c.590A>T	c.(589-591)AAA>ATA	p.K197I	uc001miu.2_Intron|LYVE1_uc010rca.1_Missense_Mutation_p.K93I	NM_006691	NP_006682	Q9Y5Y7	LYVE1_HUMAN	lymphatic vessel endothelial hyaluronan receptor	197	Extracellular (Potential).				anatomical structure morphogenesis|cell-matrix adhesion|cellular component movement|response to wounding|transport	integral to plasma membrane|membrane fraction				central_nervous_system(1)|skin(1)	2				all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609)		AATCAATTTTTTTCTCCGTGG	0.423													24	41					0	0	0.002780	0	0
ARNTL	406	broad.mit.edu	37	11	13399896	13399897	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:13399896_13399897GG>AA	uc001mkr.2	+	17	1835_1836	c.1427_1428GG>AA	c.(1426-1428)AGG>AAA	p.R476K	ARNTL_uc001mko.2_Missense_Mutation_p.R432K|ARNTL_uc001mkp.2_Missense_Mutation_p.R475K|ARNTL_uc001mkq.2_Missense_Mutation_p.R475K|ARNTL_uc001mks.2_Missense_Mutation_p.R433K|ARNTL_uc001mkt.2_Missense_Mutation_p.R476K|ARNTL_uc001mku.2_RNA|ARNTL_uc001mkw.2_Missense_Mutation_p.R433K|ARNTL_uc001mkx.2_Missense_Mutation_p.R474K|ARNTL_uc001mky.2_Missense_Mutation_p.R14K	NM_001178	NP_001169	O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear	476					circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity				0				Epithelial(150;0.0243)		GGCCCAAAGAGGACCCACCCCA	0.47													7	14					0	0	0.004672	0	0
PDE3B	5140	broad.mit.edu	37	11	14853268	14853268	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:14853268C>T	uc001mln.2	+	9	2392	c.2039C>T	c.(2038-2040)CCA>CTA	p.P680L	PDE3B_uc010rcr.1_Missense_Mutation_p.P629L	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	phosphodiesterase 3B	680					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding				0						TGGAATTTTCCAATTTTTGAA	0.328													25	69					0	0	0.006320	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16872745	16872745	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:16872745G>A	uc001mmo.2	-	8	704	c.689C>T	c.(688-690)TCC>TTC	p.S230F	PLEKHA7_uc010rcu.1_Missense_Mutation_p.S230F	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A	230	PH.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			skin(2)|central_nervous_system(1)	3						TACCTTAAAGGAATATTTGCG	0.507													22	53					0	0	0.003330	0	0
ABCC8	6833	broad.mit.edu	37	11	17414625	17414625	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:17414625C>T	uc001mnc.2	-	39	4785	c.4659G>A	c.(4657-4659)CGG>CGA	p.R1553R		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	1553	Cytoplasmic (By similarity).|ABC transporter 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GGATGGCACCCCGCTTCAGGA	0.627													84	166					0	0	0.003610	0	0
SAA3P	6290	broad.mit.edu	37	11	18134184	18134184	+	RNA	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:18134184C>T	uc001mnt.2	-	3		c.477G>A				NR_026576				Homo sapiens truncated serum amyloid A3 precursor (SAA3) mRNA, complete cds.												0						TCTGGCAGGCCAGCAGGTCGG	0.433													4	17					0	0	0.000248	0	0
HPS5	11234	broad.mit.edu	37	11	18327728	18327728	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:18327728A>G	uc001mod.1	-	7	1056	c.778T>C	c.(778-780)TTC>CTC	p.F260L	HPS5_uc001moe.1_Missense_Mutation_p.F146L|HPS5_uc001mof.1_Missense_Mutation_p.F146L	NM_181507	NP_852608	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5 isoform a	260						cytosol				ovary(1)|pancreas(1)|skin(1)	3						AGTTTCTTGAACTGATGTGTA	0.453									Hermansky-Pudlak_syndrome				32	64					0	0	0.005524	0	0
NAV2	89797	broad.mit.edu	37	11	19735246	19735246	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:19735246C>T	uc010rdm.1	+	1	366	c.5C>T	c.(4-6)CCG>CTG	p.P2L	NAV2_uc001mpp.2_Intron|NAV2_uc001mpr.3_Missense_Mutation_p.P2L|LOC100126784_uc010rdl.1_3'UTR	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 2	2						nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6						GAGAAGATGCCGGCCATCCTG	0.622													6	13					0	0	0.001984	0	0
SLC6A5	9152	broad.mit.edu	37	11	20648366	20648366	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:20648366G>A	uc001mqd.2	+	8	1646	c.1373G>A	c.(1372-1374)TGG>TAG	p.W458*	SLC6A5_uc009yic.2_Nonsense_Mutation_p.W223*	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter	458					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			ovary(2)|breast(1)|skin(1)	4					Glycine(DB00145)	ACACCCAAGTGGGAGAAACTC	0.562													21	48					0	0	0.005443	0	0
MUC15	143662	broad.mit.edu	37	11	26584708	26584708	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:26584708C>T	uc001mqx.2	-	3	1065	c.799G>A	c.(799-801)GAT>AAT	p.D267N	ANO3_uc010rdr.1_Intron|ANO3_uc001mqt.3_Intron|ANO3_uc010rds.1_Intron|ANO3_uc010rdt.1_Intron|MUC15_uc001mqw.2_Missense_Mutation_p.D294N|MUC15_uc001mqy.2_Intron	NM_145650	NP_663625	Q8N387	MUC15_HUMAN	mucin 15 isoform b	267	Cytoplasmic (Potential).					extracellular region|integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|pancreas(1)	3						GAAAATGAATCCGTTTTCCTT	0.398													21	61					0	0	0.001882	0	0
MUC15	143662	broad.mit.edu	37	11	26584715	26584715	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:26584715C>T	uc001mqx.2	-	3	1058	c.792G>A	c.(790-792)AGG>AGA	p.R264R	ANO3_uc010rdr.1_Intron|ANO3_uc001mqt.3_Intron|ANO3_uc010rds.1_Intron|ANO3_uc010rdt.1_Intron|MUC15_uc001mqw.2_Silent_p.R291R|MUC15_uc001mqy.2_Intron	NM_145650	NP_663625	Q8N387	MUC15_HUMAN	mucin 15 isoform b	264	Cytoplasmic (Potential).					extracellular region|integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|pancreas(1)	3						AATCCGTTTTCCTTTTTCCAC	0.388													23	62					0	0	0.003954	0	0
MUC15	143662	broad.mit.edu	37	11	26584811	26584811	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:26584811T>A	uc001mqx.2	-	3	962	c.696A>T	c.(694-696)GAA>GAT	p.E232D	ANO3_uc010rdr.1_Intron|ANO3_uc001mqt.3_Intron|ANO3_uc010rds.1_Intron|ANO3_uc010rdt.1_Intron|MUC15_uc001mqw.2_Missense_Mutation_p.E259D|MUC15_uc001mqy.2_Intron	NM_145650	NP_663625	Q8N387	MUC15_HUMAN	mucin 15 isoform b	232	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|pancreas(1)	3						TATTTCTATTTTCTACAGGAC	0.313													11	29					0	0	0.008291	0	0
ANO3	63982	broad.mit.edu	37	11	26621241	26621241	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:26621241A>T	uc001mqt.3	+	17	1961	c.1816A>T	c.(1816-1818)ATC>TTC	p.I606F	ANO3_uc010rdr.1_Missense_Mutation_p.I590F|ANO3_uc010rds.1_Missense_Mutation_p.I445F|ANO3_uc010rdt.1_Missense_Mutation_p.I460F	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	transmembrane protein 16C	606	Helical; (Potential).					chloride channel complex	chloride channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						CAATTTCATAATCATTATGTT	0.368													25	34					0	0	0.004656	0	0
BDNF	627	broad.mit.edu	37	11	27679710	27679710	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:27679710G>A	uc010rdu.1	-	2	1253	c.402C>T	c.(400-402)CGC>CGT	p.R134R	BDNFOS_uc001mrm.2_Intron|BDNFOS_uc009yij.2_Intron|BDNFOS_uc009yik.2_Intron|BDNFOS_uc009yil.2_Intron|BDNFOS_uc001mrp.2_Intron|BDNFOS_uc009yim.2_Intron|BDNFOS_uc009yin.2_Intron|BDNFOS_uc009yio.2_Intron|BDNFOS_uc009yip.2_Intron|BDNFOS_uc001mrn.2_Intron|BDNFOS_uc009yiq.2_Intron|BDNFOS_uc001mro.2_Intron|BDNFOS_uc009yir.2_Intron|BDNFOS_uc009yis.2_Intron|BDNFOS_uc009yit.2_Intron|BDNFOS_uc009yiu.2_Intron|BDNFOS_uc009yiv.2_Intron|BDNFOS_uc009yiw.2_Intron|BDNFOS_uc009yix.2_Intron|BDNFOS_uc009yiy.2_Intron|BDNFOS_uc009yiz.2_Intron|BDNFOS_uc001mrq.3_Intron|BDNFOS_uc001mrr.3_Intron|BDNFOS_uc009yja.2_Intron|BDNFOS_uc009yjb.2_Intron|BDNF_uc010rdv.1_Silent_p.R134R|BDNF_uc001mrt.2_Silent_p.R149R|BDNF_uc010rdw.1_Silent_p.R134R|BDNF_uc009yjd.2_Silent_p.R134R|BDNF_uc001mru.2_Silent_p.R134R|BDNF_uc010rdx.1_Silent_p.R134R|BDNF_uc010rdy.1_Silent_p.R134R|BDNF_uc009yjg.2_Silent_p.R134R|BDNF_uc009yje.2_Silent_p.R216R|BDNF_uc009yjf.2_Silent_p.R163R|BDNF_uc001mrv.2_Silent_p.R134R|BDNF_uc001mrw.3_Silent_p.R134R|BDNF_uc001mrx.2_Silent_p.R134R|BDNF_uc001mry.3_Silent_p.R134R|BDNF_uc001mrz.3_Silent_p.R134R|BDNF_uc001msa.2_Silent_p.R142R	NM_001143816	NP_001137288	P23560	BDNF_HUMAN	brain-derived neurotrophic factor isoform a	134						extracellular region	growth factor activity				0						GCTCCCCTCGGCGGGCAGGGT	0.552													29	65					0	0	0.005443	0	0
KCNA4	3739	broad.mit.edu	37	11	30033267	30033267	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:30033267G>A	uc001msk.2	-	2	2111	c.959C>T	c.(958-960)TCC>TTC	p.S320F		NM_002233	NP_002224	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related	320	Helical; Name=Segment S1; (Potential).					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						GATGACAATGGAGATTAAGAT	0.483													25	45					0	0	0.006320	0	0
DCDC1	341019	broad.mit.edu	37	11	31312262	31312262	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:31312262G>A	uc001msv.2	-	7	1094	c.892C>T	c.(892-894)CTG>TTG	p.L298L	DCDC1_uc001msu.1_Intron	NM_181807	NP_861523	P59894	DCDC1_HUMAN	doublecortin domain containing 1	298					intracellular signal transduction					skin(1)	1	Lung SC(675;0.225)					TTAAAGAACAGAATTCGGACT	0.363													23	53					0	0	0.003954	0	0
PAX6	5080	broad.mit.edu	37	11	31815066	31815066	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:31815066T>C	uc001mtd.3	-	10	1842	c.952A>G	c.(952-954)ACA>GCA	p.T318A	PAX6_uc001mte.3_Missense_Mutation_p.T318A|PAX6_uc001mtg.3_Missense_Mutation_p.T332A|PAX6_uc001mtf.3_Missense_Mutation_p.T318A|PAX6_uc001mth.3_Missense_Mutation_p.T318A|PAX6_uc009yjr.2_Missense_Mutation_p.T318A	NM_001127612	NP_001121084	P26367	PAX6_HUMAN	paired box gene 6 isoform a	318	Pro/Ser/Thr-rich.				blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			lung(4)|ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	9	Lung SC(675;0.225)					GCTGTGTCTGTTCGGCCCAAC	0.537									Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation				41	76					0	0	0.002222	0	0
CCDC73	493860	broad.mit.edu	37	11	32636158	32636158	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:32636158A>G	uc001mtv.2	-	16	1750	c.1706T>C	c.(1705-1707)GTT>GCT	p.V569A		NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	sarcoma antigen NY-SAR-79	569										ovary(1)|central_nervous_system(1)	2	Breast(20;0.112)					GTTATTTTCAACCTCCAGATT	0.289													24	47					0	0	0.003330	0	0
QSER1	79832	broad.mit.edu	37	11	32955488	32955488	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:32955488C>T	uc001mty.2	+	4	2564	c.2297C>T	c.(2296-2298)CCC>CTC	p.P766L	QSER1_uc001mtz.1_Missense_Mutation_p.P527L|QSER1_uc001mua.2_Missense_Mutation_p.P271L	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	766	Gln-rich.									ovary(3)|central_nervous_system(2)|skin(1)	6	Breast(20;0.158)					ATAGTACATCCCTTCCTTCAG	0.408													39	93					0	0	0.003610	0	0
APIP	51074	broad.mit.edu	37	11	34916658	34916658	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:34916658C>T	uc001mvs.2	-	2	166	c.58_splice	c.e2-1	p.D20_splice	APIP_uc010reo.1_Splice_Site_p.D37_splice	NM_015957	NP_057041	Q96GX9	MTNB_HUMAN	APAF1 interacting protein						apoptosis|L-methionine salvage	cytoplasm	identical protein binding|metal ion binding|methylthioribulose 1-phosphate dehydratase activity				0	all_epithelial(35;0.161)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.000425)			GCTCCTTGTCCTTAAAAAGAA	0.368													17	57					0	0	0.004990	0	0
SLC1A2	6506	broad.mit.edu	37	11	35336589	35336589	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:35336589G>A	uc001mwd.2	-	3	883	c.291C>T	c.(289-291)ATC>ATT	p.I97I	SLC1A2_uc001mwe.2_Silent_p.I88I|SLC1A2_uc010rev.1_Silent_p.I97I	NM_004171	NP_004162	P43004	EAA2_HUMAN	excitatory amino acid transporter 2	97	Helical; (Potential).				D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			ovary(2)|central_nervous_system(1)	3	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	AGCTGGAGATGATTAGAGGGA	0.443													46	79					0	0	0.003610	0	0
SLC1A2	6506	broad.mit.edu	37	11	35336636	35336636	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:35336636C>A	uc001mwd.2	-	3	836	c.244G>T	c.(244-246)GGG>TGG	p.G82W	SLC1A2_uc001mwe.2_Missense_Mutation_p.G73W|SLC1A2_uc010rev.1_Missense_Mutation_p.G82W	NM_004171	NP_004162	P43004	EAA2_HUMAN	excitatory amino acid transporter 2	82					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			ovary(2)|central_nervous_system(1)	3	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	AGTATATCCCCTGGGAAGGCT	0.488													6	78					0.00307968	0.00397534	0.003080	1	0
PAMR1	25891	broad.mit.edu	37	11	35454294	35454294	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:35454294G>C	uc001mwg.2	-	11	1816	c.1773C>G	c.(1771-1773)TTC>TTG	p.F591L	PAMR1_uc001mwf.2_Missense_Mutation_p.F608L|PAMR1_uc010rew.1_Missense_Mutation_p.F480L|PAMR1_uc010rex.1_Missense_Mutation_p.F551L	NM_001001991	NP_001001991	Q6UXH9	PAMR1_HUMAN	regeneration associated muscle protease isoform	591	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(2)	2						GGGACTCCTGGAAGGAAGTGC	0.602													15	26					0	0	0.004990	0	0
TTC17	55761	broad.mit.edu	37	11	43469660	43469660	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:43469660C>T	uc001mxi.2	+	19	2788	c.2774C>T	c.(2773-2775)TCA>TTA	p.S925L	TTC17_uc010rfj.1_Missense_Mutation_p.S925L|TTC17_uc001mxl.2_5'Flank	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	925							binding			ovary(5)	5						GCAGTTTCTTCAAAAAACATT	0.507													12	23					0	0	0.001368	0	0
MAPK8IP1	9479	broad.mit.edu	37	11	45926794	45926795	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:45926794_45926795CC>TT	uc001nbr.2	+	11	2227_2228	c.2057_2058CC>TT	c.(2056-2058)TCC>TTT	p.S686F		NM_005456	NP_005447	Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting	686	PID.				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity			ovary(2)|breast(1)|skin(1)	4				GBM - Glioblastoma multiforme(35;0.231)		CTGGCAGAGTCCGTGGGGTACG	0.639													6	22					0	0	0.004672	0	0
F2	2147	broad.mit.edu	37	11	46749618	46749618	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:46749618C>T	uc001ndf.3	+	10	1246	c.1203C>T	c.(1201-1203)GTC>GTT	p.V401V	F2_uc001ndg.3_RNA	NM_000506	NP_000497	P00734	THRB_HUMAN	coagulation factor II preproprotein	401	Peptidase S1.				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			ovary(3)	3		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	ACCGCTGGGTCCTCACCGCCG	0.622													7	9					0	0	0.003080	0	0
LRP4	4038	broad.mit.edu	37	11	46890564	46890564	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:46890564G>A	uc001ndn.3	-	32	4958	c.4812C>T	c.(4810-4812)ATC>ATT	p.I1604I	uc001ndl.2_Intron	NM_002334	NP_002325	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein	1604	Extracellular (Potential).|LDL-receptor class B 20.				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)		GGGAAACCACGATGATATCCA	0.547													25	78					0	0	0.007291	0	0
OR4A47	403253	broad.mit.edu	37	11	48510616	48510616	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:48510616C>T	uc010rhx.1	+	1	272	c.272C>T	c.(271-273)TCC>TTC	p.S91F		NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A,	91	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						AATTCCATATCCTTCCAATCT	0.423													36	88					0	0	0.006999	0	0
OR4C12	283093	broad.mit.edu	37	11	50003455	50003455	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:50003455G>A	uc010ria.1	-	1	583	c.583C>T	c.(583-585)CTC>TTC	p.L195F		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C,	195	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3						GCAACAAAGAGACCAAGGGTA	0.408													25	52					0	0	0.003954	0	0
OR4C12	283093	broad.mit.edu	37	11	50003823	50003823	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:50003823G>A	uc010ria.1	-	1	215	c.215C>T	c.(214-216)TCT>TTT	p.S72F		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C,	72	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3						TGAAGAAGAAGAATAAACTGT	0.438													21	47					0	0	0.008871	0	0
TRIM48	79097	broad.mit.edu	37	11	55032679	55032679	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:55032679G>A	uc010rid.1	+	2	434	c.348G>A	c.(346-348)AAG>AAA	p.K116K		NM_024114	NP_077019	Q8IWZ4	TRI48_HUMAN	tripartite motif-containing 48	100	B box-type.					intracellular	zinc ion binding				0						GGGAGACAAAGAAGATGTTCT	0.527													13	38					0	0	0.001855	0	0
Unknown	0	broad.mit.edu	37	11	55065456	55065456	+	RNA	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:55065456C>T	uc001nhl.1	-	1		c.253G>A								Homo sapiens mRNA for hypothetical protein, partial sequence, clone:Hsa11-digit20-11-30-F.																		CTTTGTCTCTCTGTGCATCCC	0.473													7	13					0	0	0.001984	0	0
OR4A15	81328	broad.mit.edu	37	11	55136058	55136058	+	Silent	SNP	G	A	A	rs141225150	byFrequency	TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:55136058G>A	uc010rif.1	+	1	699	c.699G>A	c.(697-699)GCG>GCA	p.A233A		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A,	233	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						ATGGAGGAGCGATTTGTGCTG	0.413													35	59					0	0	0.002836	0	0
OR4A15	81328	broad.mit.edu	37	11	55136193	55136193	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:55136193C>T	uc010rif.1	+	1	834	c.834C>T	c.(832-834)TTC>TTT	p.F278F		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A,	278	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						TCATTTTATTCTTTGTCCCCT	0.413													53	141					0	0	0.003610	0	0
OR4C16	219428	broad.mit.edu	37	11	55339661	55339661	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:55339661T>A	uc010rih.1	+	1	58	c.58T>A	c.(58-60)TTT>ATT	p.F20I		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C,	20	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		all_epithelial(135;0.0748)				ACAGGATCCTTTTTGGAAGAA	0.398													33	67					0	0	0.003755	0	0
OR4C16	219428	broad.mit.edu	37	11	55340503	55340503	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:55340503G>A	uc010rih.1	+	1	900	c.900G>A	c.(898-900)TGG>TGA	p.W300*		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C,	300	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		all_epithelial(135;0.0748)				GGAAGCTTTGGAGCAAGAAAT	0.338													8	16					0	0	0.003080	0	0
OR4C11	219429	broad.mit.edu	37	11	55371635	55371635	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:55371635G>A	uc010rii.1	-	1	215	c.215C>T	c.(214-216)TCA>TTA	p.S72L		NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C,	72	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						TGTGGAAGTTGAAAAGCAAGA	0.388													36	61					0	0	0.004289	0	0
OR4C6	219432	broad.mit.edu	37	11	55432857	55432857	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:55432857C>T	uc001nht.3	+	3	480	c.215C>T	c.(214-216)TCA>TTA	p.S72L	OR4C6_uc010rik.1_Missense_Mutation_p.S72L	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C,	72	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2						GTCATGTTCTCATCTGTCGTT	0.433													25	70					0	0	0.003330	0	0
OR5F1	338674	broad.mit.edu	37	11	55761862	55761862	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:55761862C>T	uc010riv.1	-	1	240	c.240G>A	c.(238-240)AAG>AAA	p.K80K		NM_003697	NP_003688	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F,	80	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2	Esophageal squamous(21;0.00448)					CTGCCAGCATCTTTGGGGTGA	0.448													25	52					0	0	0.003954	0	0
OR8H2	390151	broad.mit.edu	37	11	55873324	55873324	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:55873324G>A	uc010riy.1	+	1	806	c.806G>A	c.(805-807)GGA>GAA	p.G269E		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H,	269	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	Esophageal squamous(21;0.00693)					TATTCCTTGGGAAGAGATCAA	0.363										HNSCC(53;0.14)			30	85					0	0	0.002096	0	0
OR5T1	390155	broad.mit.edu	37	11	56043277	56043277	+	Silent	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:56043277T>C	uc001nio.1	+	1	163	c.163T>C	c.(163-165)TTA>CTA	p.L55L		NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T,	55	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)	3	Esophageal squamous(21;0.00448)					AATAGGCAATTTAGGGCTGGT	0.348													25	49					0	0	0.003954	0	0
OR5M3	219482	broad.mit.edu	37	11	56237116	56237116	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:56237116C>T	uc010rjk.1	-	1	858	c.858G>A	c.(856-858)ATG>ATA	p.M286I		NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M,	286	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					GACTGTAGATCATGGGATTCA	0.403													9	16					0	0	0.008871	0	0
LRRC55	219527	broad.mit.edu	37	11	56949561	56949561	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:56949561C>T	uc001njl.1	+	1	341	c.194C>T	c.(193-195)TCC>TTC	p.S65F		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	35						integral to membrane					0						CTGCTGATCTCCCTCCTCTTG	0.647													4	12					0	0	0.000248	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57076696	57076696	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:57076696G>A	uc001njr.2	-	5	3801	c.3489C>T	c.(3487-3489)GAC>GAT	p.D1163D	TNKS1BP1_uc001njs.2_Silent_p.D1163D|TNKS1BP1_uc009ymd.1_Silent_p.D614D	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	tankyrase 1-binding protein 1	1163	Gly-rich.|Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			skin(1)	1		all_epithelial(135;0.21)				GACCCAGCTGGTCAGTCCAGT	0.602													21	36					0	0	0.001882	0	0
SMTNL1	219537	broad.mit.edu	37	11	57310456	57310456	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:57310456G>A	uc009ymh.1	+	2	395	c.395G>A	c.(394-396)AGG>AAG	p.R132K		NM_001105565	NP_001099035	E9PPJ3	E9PPJ3_HUMAN	smoothelin-like 1	114										ovary(1)	1						ATGACTGGCAGGAAAGAAGAG	0.522													4	7					0	0	0.000248	0	0
SMTNL1	219537	broad.mit.edu	37	11	57313408	57313408	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:57313408G>A	uc009ymh.1	+	5	1026	c.1026G>A	c.(1024-1026)GGG>GGA	p.G342G		NM_001105565	NP_001099035	E9PPJ3	E9PPJ3_HUMAN	smoothelin-like 1	324										ovary(1)	1						CTTCCTCAGGGGAGAAGAAGG	0.627													5	13					0	0	0.001168	0	0
SERPING1	710	broad.mit.edu	37	11	57381837	57381837	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:57381837G>A	uc001nkp.1	+	8	1477	c.1286G>A	c.(1285-1287)GGG>GAG	p.G429E	SERPING1_uc001nkq.1_Missense_Mutation_p.G392E|SERPING1_uc010rju.1_Missense_Mutation_p.G377E|SERPING1_uc010rjv.1_Missense_Mutation_p.G434E|SERPING1_uc001nkr.1_Missense_Mutation_p.G429E|SERPING1_uc009ymi.1_Missense_Mutation_p.G438E|SERPING1_uc009ymj.1_Missense_Mutation_p.G356S|SERPING1_uc001nks.1_Missense_Mutation_p.G120E	NM_000062	NP_000053	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G, member 1	429			G -> R (in HAE; type 2).		blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)	1						AACCTGTGTGGGCTGACAGAG	0.527									Hereditary_Angioedema				39	66					0	0	0.008740	0	0
OR5B21	219968	broad.mit.edu	37	11	58275298	58275299	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:58275298_58275299CC>TT	uc010rki.1	-	1	280_281	c.280_281GG>AA	c.(280-282)GGA>AAA	p.G94K		NM_001005218	NP_001005218	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B,	94	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AGCTGCACATCCATCGTAGGAG	0.55													5	9					0	0	0.004672	0	0
GLYATL2	219970	broad.mit.edu	37	11	58602012	58602012	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:58602012G>A	uc001nnd.3	-	6	906	c.775C>T	c.(775-777)CAT>TAT	p.H259Y	GLYATL2_uc009ymq.2_Missense_Mutation_p.H259Y	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	259						mitochondrion	glycine N-acyltransferase activity			ovary(1)|skin(1)	2		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	TCTGCCACATGGAAATAAAAT	0.403													17	66					0	0	0.007413	0	0
FAM111A	63901	broad.mit.edu	37	11	58919326	58919326	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:58919326C>T	uc010rkp.1	+	5	412	c.185C>T	c.(184-186)TCA>TTA	p.S62L	FAM111A_uc010rkq.1_Missense_Mutation_p.S62L|FAM111A_uc010rkr.1_Missense_Mutation_p.S62L|FAM111A_uc001nno.2_Missense_Mutation_p.S62L|FAM111A_uc001nnp.2_Missense_Mutation_p.S62L|FAM111A_uc001nnq.2_Missense_Mutation_p.S62L	NM_001142521	NP_001135993	Q96PZ2	F111A_HUMAN	hypothetical protein LOC63901	62					proteolysis		serine-type endopeptidase activity			ovary(3)	3		all_epithelial(135;0.139)				AGATTCCATTCACCTAAGAAA	0.403													47	71					0	0	0.002852	0	0
OR5A2	219981	broad.mit.edu	37	11	59189524	59189524	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:59189524G>A	uc010rkt.1	-	1	903	c.903C>T	c.(901-903)GCC>GCT	p.A301A		NM_001001954	NP_001001954	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A,	301	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CTTTCCTCATGGCATTTTTAA	0.458													23	56					0	0	0.001882	0	0
OR4D6	219983	broad.mit.edu	37	11	59224522	59224522	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:59224522T>G	uc010rku.1	+	1	89	c.89T>G	c.(88-90)GTC>GGC	p.V30G		NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D,	30	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						TTGTTTGTGGTCTTCTTTGCT	0.463													46	92					0	0	0.003610	0	0
OR4D10	390197	broad.mit.edu	37	11	59245628	59245628	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:59245628C>T	uc001nnz.1	+	1	726	c.726C>T	c.(724-726)TCC>TCT	p.S242S		NM_001004705	NP_001004705	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D,	242	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3						CCTGCACCTCCCACATCACTG	0.537													27	84					0	0	0.008361	0	0
OR4D11	219986	broad.mit.edu	37	11	59271645	59271645	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:59271645G>A	uc001noa.1	+	1	597	c.597G>A	c.(595-597)ATG>ATA	p.M199I		NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D,	199	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						AGTTCTTGATGATTTCCAACA	0.498													45	95					0	0	0.003214	0	0
MS4A10	341116	broad.mit.edu	37	11	60558512	60558512	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:60558512G>A	uc001npz.1	+	3	345	c.249G>A	c.(247-249)AAG>AAA	p.K83K		NM_206893	NP_996776	Q96PG2	M4A10_HUMAN	membrane-spanning 4-domains, subfamily A, member	83	Extracellular (Potential).					integral to membrane	receptor activity			ovary(1)|skin(1)	2						CTATAGTCAAGAACCTTCACC	0.582													26	89					0	0	0.008361	0	0
CD5	921	broad.mit.edu	37	11	60892556	60892556	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:60892556C>T	uc009ynk.2	+	9	1435	c.1332C>T	c.(1330-1332)CCC>CCT	p.P444P		NM_014207	NP_055022	P06127	CD5_HUMAN	CD5 molecule precursor	444	Cytoplasmic (Potential).				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity			ovary(1)	1		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		CTGAGAACCCCACAGCCTCCC	0.592													10	34					0	0	0.001368	0	0
PGA5	5222	broad.mit.edu	37	11	61018705	61018705	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:61018705C>T	uc001nqz.2	+	9	1149	c.1119C>T	c.(1117-1119)ACC>ACT	p.T373T		NM_014224	NP_055039	P00790	PEPA_HUMAN	pepsinogen 5, group I precursor	373					digestion|proteolysis	extracellular region	aspartic-type endopeptidase activity			skin(1)	1						AGTACTTTACCGTCTTCGACA	0.587													57	101					0	0	0.003610	0	0
DAK	26007	broad.mit.edu	37	11	61106612	61106612	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:61106612C>T	uc001nre.2	+	4	525	c.268C>T	c.(268-270)CTG>TTG	p.L90L	DDB1_uc010rlf.1_Intron|DAK_uc009ynm.1_Silent_p.L20L	NM_015533	NP_056348	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2	90	DhaK.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding				0						GGGCAGCATCCTGGCAGCCAT	0.657													18	32					0	0	0.008871	0	0
SYT7	9066	broad.mit.edu	37	11	61291412	61291412	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:61291412C>T	uc001nrv.2	-	7	800	c.794G>A	c.(793-795)GGG>GAG	p.G265E	SYT7_uc009ynr.2_Missense_Mutation_p.G340E	NM_004200	NP_004191	O43581	SYT7_HUMAN	synaptotagmin VII	265	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			ovary(3)|pancreas(1)	4						CCCTCGGCTCCCCTGGGAGGC	0.592													40	66					0	0	0.006999	0	0
SCGB1D2	10647	broad.mit.edu	37	11	62010789	62010789	+	Silent	SNP	T	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:62010789T>G	uc001ntb.2	+	2	140	c.84T>G	c.(82-84)GTT>GTG	p.V28V		NM_006551	NP_006542	O95969	SG1D2_HUMAN	lipophilin B precursor	28						extracellular space	binding				0						CAGCTCTTGTTTCTGAGCTGT	0.433													14	53					0	0	0.003163	0	0
AHNAK	79026	broad.mit.edu	37	11	62285731	62285731	+	Silent	SNP	G	T	T	rs138648206		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:62285731G>T	uc001ntl.2	-	5	16458	c.16158C>A	c.(16156-16158)TCC>TCA	p.S5386S	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	5386					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				GAGCTCCTACGGATACTTTAG	0.522													12	34					3.07112e-06	3.98467e-06	0.000978	1	0
AHNAK	79026	broad.mit.edu	37	11	62290874	62290874	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:62290874G>A	uc001ntl.2	-	5	11315	c.11015C>T	c.(11014-11016)TCC>TTC	p.S3672F	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	3672					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				GTCAGGCATGGAGATCTTGGG	0.488													70	170					0	0	0.003610	0	0
SLC22A10	387775	broad.mit.edu	37	11	63129936	63129936	+	RNA	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:63129936G>A	uc010rmo.1	+	9		c.1058G>A						Q63ZE4	S22AA_HUMAN	Homo sapiens mRNA for putative protein product of HMFN2567, complete cds.							integral to membrane	transmembrane transporter activity			ovary(2)	2						CTGCATGCTGGAATAGAATGA	0.453													4	12					0	0	0.000248	0	0
RARRES3	5920	broad.mit.edu	37	11	63312210	63312210	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:63312210G>A	uc001nxf.3	+	3	304	c.236G>A	c.(235-237)AGC>AAC	p.S79N		NM_004585	NP_004576	Q9UL19	TIG3_HUMAN	retinoic acid receptor responder (tazarotene	79					lipid catabolic process|negative regulation of cell proliferation		hydrolase activity			ovary(1)	1						GTCAACAACAGCTTGGACCAT	0.542													26	50					0	0	0.004656	0	0
NRXN2	9379	broad.mit.edu	37	11	64457898	64457898	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:64457898C>T	uc001oar.2	-	6	1268	c.829G>A	c.(829-831)GAT>AAT	p.D277N	NRXN2_uc001oas.2_Intron|NRXN2_uc001oaq.2_5'UTR	NM_015080	NP_055895	P58401	NRX2B_HUMAN	neurexin 2 isoform alpha-1 precursor	Error:Variant_position_missing_in_P58401_after_alignment					cell adhesion	integral to membrane				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						TGGTGCACATCGCCGGCTCCT	0.632													10	14					0	0	0.000978	0	0
MEN1	4221	broad.mit.edu	37	11	64575469	64575469	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:64575469C>T	uc001obj.2	-	3	636	c.563G>A	c.(562-564)TGG>TAG	p.W188*	MEN1_uc001obk.2_Nonsense_Mutation_p.W188*|MEN1_uc001obl.2_Nonsense_Mutation_p.W183*|MEN1_uc001obm.2_Nonsense_Mutation_p.W183*|MEN1_uc001obn.2_Nonsense_Mutation_p.W188*|MEN1_uc001obo.2_Nonsense_Mutation_p.W188*|MEN1_uc001obp.2_Nonsense_Mutation_p.W183*|MEN1_uc001obq.2_Nonsense_Mutation_p.W188*|MEN1_uc001obr.2_Nonsense_Mutation_p.W188*	NM_130800	NP_570712	O00255	MEN1_HUMAN	menin isoform 1	188			W -> R (in MEN1 and parathyroid tumor).|W -> S (in MEN1).		DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	p.W183*(1)		parathyroid(105)|pancreas(64)|gastrointestinal_tract_(site_indeterminate)(15)|small_intestine(13)|lung(9)|pituitary(7)|NS(7)|adrenal_gland(5)|soft_tissue(4)|central_nervous_system(4)|thymus(2)|stomach(1)|retroperitoneum(1)|skin(1)	238						AAACACTACCCAGGCATGATC	0.637			D|Mis|N|F|S		parathyroid tumors|Pancreatic neuroendocrine tumors	parathyroid adenoma|pituitary adenoma|pancreatic islet cell|carcinoid			Hyperparathyroidism_Familial_Isolated|Multiple_Endocrine_Neoplasia_type_1				6	21					0	0	0.001168	0	0
ATG2A	23130	broad.mit.edu	37	11	64678702	64678702	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:64678702G>A	uc001obx.2	-	10	1389	c.1274C>T	c.(1273-1275)TCG>TTG	p.S425L		NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	425							protein binding			ovary(1)|central_nervous_system(1)	2						CTTCAGCAGCGAGTCAGGGCG	0.627													19	42					0	0	0.008871	0	0
PPP2R5B	5526	broad.mit.edu	37	11	64693246	64693246	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:64693246C>T	uc001oby.2	+	2	625	c.40C>T	c.(40-42)CCC>TCC	p.P14S	PPP2R5B_uc001obz.2_Missense_Mutation_p.P14S	NM_006244	NP_006235	Q15173	2A5B_HUMAN	beta isoform of regulatory subunit B56, protein	14					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			ovary(2)	2						CCCCACTAGCCCCTCCTCCCC	0.721													7	5					0	0	0.001984	0	0
EFEMP2	30008	broad.mit.edu	37	11	65637650	65637651	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:65637650_65637651GG>AT	uc001ofy.3	-	6	742_743	c.548_549CC>AT	c.(547-549)TCC>TAT	p.S183Y	EFEMP2_uc001ofz.2_RNA|EFEMP2_uc001oga.2_Missense_Mutation_p.S183Y	NM_016938	NP_058634	O95967	FBLN4_HUMAN	EGF-containing fibulin-like extracellular matrix	183	EGF-like 3; calcium-binding (Potential).				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(159;0.169)		GGCAGCGGAAGGAGCCAGGCAG	0.668													21	59					0	0	0.004672	0	0
EFEMP2	30008	broad.mit.edu	37	11	65638023	65638023	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:65638023G>A	uc001ofy.3	-	5	668	c.474C>T	c.(472-474)ATC>ATT	p.I158I	EFEMP2_uc001ofz.2_RNA|EFEMP2_uc001oga.2_Silent_p.I158I	NM_016938	NP_058634	O95967	FBLN4_HUMAN	EGF-containing fibulin-like extracellular matrix	158	EGF-like 2; calcium-binding (Potential).				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(159;0.169)		ACTCGGGCCCGATCTTGCGGT	0.622													7	15					0	0	0.003080	0	0
FIBP	9158	broad.mit.edu	37	11	65652610	65652610	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:65652610G>A	uc001ogd.2	-	6	836	c.715C>T	c.(715-717)CAG>TAG	p.Q239*	FIBP_uc009yqu.2_Nonsense_Mutation_p.Q229*|FIBP_uc001oge.2_Nonsense_Mutation_p.Q232*	NM_198897	NP_942600	O43427	FIBP_HUMAN	FGF intracellular binding protein isoform a	239					fibroblast growth factor receptor signaling pathway	endomembrane system|membrane|microsome|mitochondrion|nucleus	fibroblast growth factor binding			ovary(1)	1				READ - Rectum adenocarcinoma(159;0.166)		TTCAAGTCCTGGAGAAATTCC	0.552											OREG0021089	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	93					0	0	0.006230	0	0
GAL3ST3	89792	broad.mit.edu	37	11	65810824	65810824	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:65810824G>A	uc001ogv.2	-	2	610	c.450C>T	c.(448-450)ATC>ATT	p.I150I	GAL3ST3_uc001ogw.2_Silent_p.I150I	NM_033036	NP_149025	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	150	Lumenal (Potential).				monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			ovary(1)	1						GCTCGCGCAGGATGGTGACAT	0.697													5	6					0	0	0.000602	0	0
PACS1	55690	broad.mit.edu	37	11	66006630	66006630	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:66006630C>T	uc001oha.1	+	21	2445	c.2311C>T	c.(2311-2313)CCT>TCT	p.P771S	PACS1_uc010rou.1_Missense_Mutation_p.P307S	NM_018026	NP_060496	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	771				P -> S (in Ref. 2; BAC04831).	interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding			ovary(6)	6						GGACGATTCTCCTGTGGTCAG	0.622													15	30					0	0	0.008871	0	0
NPAS4	266743	broad.mit.edu	37	11	66190310	66190310	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:66190310C>T	uc001ohx.1	+	4	772	c.596C>T	c.(595-597)CCC>CTC	p.P199L	NPAS4_uc010rpc.1_Missense_Mutation_p.P26S	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	199					transcription, DNA-dependent		DNA binding|signal transducer activity				0						GAGCCGAGACCCCGCCCAGGT	0.627													14	41					0	0	0.004007	0	0
MRPL11	65003	broad.mit.edu	37	11	66206157	66206157	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:66206157G>A	uc001ohz.3	-	1	154	c.69C>T	c.(67-69)ATC>ATT	p.I23I	MRPL11_uc001ohy.3_Silent_p.I23I|MRPL11_uc001oia.3_Intron	NM_016050	NP_057134	Q9Y3B7	RM11_HUMAN	mitochondrial ribosomal protein L11 isoform a	23					translation		structural constituent of ribosome				0						CTGCCCGCACGATCGCCCGGA	0.711													10	21					0	0	0.008291	0	0
PC	5091	broad.mit.edu	37	11	66631373	66631373	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:66631373G>A	uc001ojn.1	-	10	1289	c.1240C>T	c.(1240-1242)CAA>TAA	p.Q414*	PC_uc001ojo.1_Nonsense_Mutation_p.Q414*|PC_uc001ojp.1_Nonsense_Mutation_p.Q414*	NM_022172	NP_071504	P11498	PYC_HUMAN	pyruvate carboxylase precursor	414	Biotin carboxylation.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			ovary(2)|lung(1)|kidney(1)	4		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	ACGGCTCCTTGGAAGGCGGAA	0.637													40	94					0	0	0.003610	0	0
ADRBK1	156	broad.mit.edu	37	11	67052645	67052645	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:67052645A>T	uc009yrn.1	+	20	2157	c.1891A>T	c.(1891-1893)ATT>TTT	p.I631F	ADRBK1_uc009yrm.1_Intron	NM_001619	NP_001610	P25098	ARBK1_HUMAN	beta-adrenergic receptor kinase 1	631	PH.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			large_intestine(1)	1			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	GAAACAGTTCATTTTGCAGTG	0.637													50	104					0	0	0.003610	0	0
CARNS1	57571	broad.mit.edu	37	11	67191509	67191509	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:67191509G>A	uc009yrp.2	+	9	2373	c.1921G>A	c.(1921-1923)GCG>ACG	p.A641T	PPP1CA_uc001okx.1_5'Flank|CARNS1_uc001olc.3_Missense_Mutation_p.A780T	NM_020811	NP_065862	A5YM72	CRNS1_HUMAN	ATP-grasp domain containing 1	641	ATP-grasp.				carnosine biosynthetic process		ATP binding|carnosine synthase activity|metal ion binding				0						CACTGAGACGGCGGCCTGCAT	0.642													8	13					0	0	0.004482	0	0
TCIRG1	10312	broad.mit.edu	37	11	67815412	67815413	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:67815412_67815413GG>AA	uc001one.2	+	13	1635_1636	c.1527_1528GG>AA	c.(1525-1530)CTGGGA>CTAAGA	p.G510R	TCIRG1_uc001ong.2_Missense_Mutation_p.G294R|TCIRG1_uc001onh.2_Missense_Mutation_p.G212R|TCIRG1_uc001oni.2_Missense_Mutation_p.G14R|TCIRG1_uc009ysd.2_5'Flank	NM_006019	NP_006010	Q13488	VPP3_HUMAN	T-cell, immune regulator 1 isoform a	510	Helical; (Potential).				ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			ovary(1)	1						GTGTCTTCCTGGGACCCTACCC	0.653													14	27					0	0	0.004672	0	0
TCIRG1	10312	broad.mit.edu	37	11	67816408	67816408	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:67816408C>T	uc001one.2	+	14	1725	c.1617C>T	c.(1615-1617)GTC>GTT	p.V539V	TCIRG1_uc001ong.2_Silent_p.V323V|TCIRG1_uc001onh.2_Silent_p.V241V|TCIRG1_uc001oni.2_Silent_p.V43V|TCIRG1_uc009ysd.2_5'Flank	NM_006019	NP_006010	Q13488	VPP3_HUMAN	T-cell, immune regulator 1 isoform a	539	Helical; (Potential).				ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			ovary(1)	1						AGATGTCCGTCATCCTGGGCG	0.632													46	89					0	0	0.003610	0	0
CHKA	1119	broad.mit.edu	37	11	67888352	67888352	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:67888352A>C	uc001onj.2	-	1	507	c.293T>G	c.(292-294)TTC>TGC	p.F98C	CHKA_uc001onk.2_Missense_Mutation_p.F98C	NM_001277	NP_001268	P35790	CHKA_HUMAN	choline kinase alpha isoform a	98					lipid transport|phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|choline kinase activity|drug binding|ethanolamine kinase activity|signal transducer activity			ovary(1)|central_nervous_system(1)	2					Choline(DB00122)	GCCGGGCAGGAACTCCTTGCA	0.572													14	29					0	0	0.002299	0	0
MRPL21	219927	broad.mit.edu	37	11	68668047	68668047	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:68668047A>G	uc001ooi.2	-	2	140	c.115T>C	c.(115-117)TTC>CTC	p.F39L	MRPL21_uc001ooh.2_5'UTR|MRPL21_uc010rqe.1_Missense_Mutation_p.F39L	NM_181514	NP_852615	Q7Z2W9	RM21_HUMAN	mitochondrial ribosomal protein L21 isoform d	39					translation	mitochondrion|ribosome	RNA binding|structural constituent of ribosome				0			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TGTGAATTGAACCTTCGAGAA	0.388													70	165					0	0	0.003610	0	0
PPFIA1	8500	broad.mit.edu	37	11	70208469	70208469	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:70208469C>T	uc001opo.2	+	21	2938	c.2740C>T	c.(2740-2742)CTG>TTG	p.L914L	PPFIA1_uc001opn.1_Silent_p.L914L|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opr.2_Silent_p.L22L	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	PTPRF interacting protein alpha 1 isoform b	914	SAM 1.				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			lung(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CATGTCGGCCCTGTCCGACAC	0.617													21	36					0	0	0.001523	0	0
SHANK2	22941	broad.mit.edu	37	11	70332129	70332129	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:70332129G>A	uc001oqc.2	-	21	4347	c.4269C>T	c.(4267-4269)ATC>ATT	p.I1423I	SHANK2_uc010rqn.1_Silent_p.I835I|SHANK2_uc001opz.2_Silent_p.I828I|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1044					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GGTCATCGGGGATATCAAAAC	0.522													42	62					0	0	0.003610	0	0
ARAP1	116985	broad.mit.edu	37	11	72425353	72425353	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:72425353C>T	uc001osu.2	-	4	712	c.523G>A	c.(523-525)GAG>AAG	p.E175K	ARAP1_uc001osv.2_Missense_Mutation_p.E175K|ARAP1_uc001osr.2_5'Flank|ARAP1_uc001oss.2_5'UTR|ARAP1_uc009yth.2_5'UTR|ARAP1_uc010rre.1_5'UTR	NM_001040118	NP_001035207	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	175					actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			skin(1)	1						GACTCCTCCTCCTTAGTGGGC	0.587													49	96					0	0	0.003610	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73022671	73022671	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:73022671C>T	uc001otu.2	+	1	3009	c.2988C>T	c.(2986-2988)CCC>CCT	p.P996P		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	996	Pro-rich.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity				0						GAGCCCATCCCACGTTGCAGG	0.607													14	31					0	0	0.002450	0	0
KCNE3	10008	broad.mit.edu	37	11	74168498	74168498	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:74168498C>T	uc001ovc.2	-	3	458	c.111G>A	c.(109-111)CTG>CTA	p.L37L	KCNE3_uc001ovd.2_Silent_p.L37L	NM_005472	NP_005463	Q9Y6H6	KCNE3_HUMAN	potassium voltage-gated channel, Isk-related	37						integral to membrane	voltage-gated potassium channel activity			ovary(1)	1	Breast(11;2.86e-06)					TGTCTGGCCCCAGCCCTGGCC	0.542													26	42					0	0	0.008361	0	0
UVRAG	7405	broad.mit.edu	37	11	75727929	75727929	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:75727929C>T	uc001oxc.2	+	12	1372	c.1131C>T	c.(1129-1131)TTC>TTT	p.F377F	UVRAG_uc010rrw.1_Silent_p.F276F|UVRAG_uc001oxd.2_Silent_p.F5F|UVRAG_uc010rrx.1_Silent_p.F5F|UVRAG_uc009yuh.1_RNA	NM_003369	NP_003360	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	377					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			skin(4)|lung(2)	6						TTTCCTTTTTCCTACAAGTGC	0.388													43	91					0	0	0.002222	0	0
PRKRIR	5612	broad.mit.edu	37	11	76062874	76062874	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:76062874G>A	uc001oxh.1	-	5	1320	c.1320C>T	c.(1318-1320)CTC>CTT	p.L440L	PRKRIR_uc010rrz.1_Silent_p.L265L	NM_004705	NP_004696	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double	440					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			ovary(2)|pancreas(1)	3						GTGCTTGCAGGAGTTCCACTA	0.383													19	46					0	0	0.004656	0	0
RSF1	51773	broad.mit.edu	37	11	77378399	77378399	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:77378399G>A	uc001oyn.2	-	16	4009	c.3889C>T	c.(3889-3891)CGC>TGC	p.R1297C	RSF1_uc001oym.2_Missense_Mutation_p.R1045C	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1297					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			ovary(2)|central_nervous_system(2)	4	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)			AGCCGTTTGCGGGATGGTTTG	0.542													30	50					0	0	0.001786	0	0
ODZ4	26011	broad.mit.edu	37	11	78412931	78412931	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:78412931T>C	uc001ozl.3	-	28	5190	c.4727A>G	c.(4726-4728)TAT>TGT	p.Y1576C	ODZ4_uc009yvb.1_Missense_Mutation_p.Y160C	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	1576	Extracellular (Potential).|YD 1.				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						AGACAGCTCATACATGTTCTG	0.522													35	63					0	0	0.004878	0	0
C11orf82	220042	broad.mit.edu	37	11	82644813	82644813	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:82644813C>T	uc001ozt.2	+	6	2677	c.2433C>T	c.(2431-2433)TTC>TTT	p.F811F	C11orf82_uc010rsr.1_Silent_p.F510F|C11orf82_uc010rss.1_Silent_p.F510F|C11orf82_uc009yvd.2_Intron	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN	nitric oxide-inducible gene protein	811					apoptosis|cell cycle arrest	cytoplasm|nucleus				ovary(2)	2						TAAGGATTTTCCCTGAAAATG	0.368													14	30					0	0	0.001855	0	0
PCF11	51585	broad.mit.edu	37	11	82877735	82877735	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:82877735C>T	uc001ozx.3	+	5	2141	c.1796C>T	c.(1795-1797)TCT>TTT	p.S599F	PCF11_uc010rsu.1_Missense_Mutation_p.S599F	NM_015885	NP_056969	O94913	PCF11_HUMAN	pre-mRNA cleavage complex II protein Pcf11	599					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				ovary(1)	1						AGATGGAAATCTGGTTGGGAA	0.333													49	114					0	0	0.003610	0	0
CCDC81	60494	broad.mit.edu	37	11	86123497	86123497	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:86123497C>T	uc001pbx.1	+	11	1715	c.1287C>T	c.(1285-1287)TCC>TCT	p.S429S	CCDC81_uc001pbw.1_Silent_p.S339S|CCDC81_uc010rtq.1_Silent_p.S212S|CCDC81_uc001pby.1_Silent_p.S164S	NM_001156474	NP_001149946	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81 isoform 1	429										skin(1)	1		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				AGGAATATTCCCGGAGTCTCC	0.418													23	83					0	0	0.002780	0	0
ME3	10873	broad.mit.edu	37	11	86160976	86160976	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:86160976G>A	uc001pbz.2	-	9	1340	c.1086C>T	c.(1084-1086)GCC>GCT	p.A362A	ME3_uc001pca.2_Silent_p.A362A|ME3_uc009yvk.2_Silent_p.A362A|ME3_uc010rtr.1_RNA	NM_001014811	NP_001014811	Q16798	MAON_HUMAN	mitochondrial malic enzyme 3 precursor	362					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding			ovary(1)	1		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	TCTTTCTTGTGGCCTCTGCCT	0.517													61	89					0	0	0.003610	0	0
FOLH1B	219595	broad.mit.edu	37	11	89407312	89407312	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:89407312T>G	uc001pda.2	+	6	885	c.359T>G	c.(358-360)CTT>CGT	p.L120R		NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B	120					proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			ovary(3)|skin(2)|central_nervous_system(1)	6						GAATTTGGTCTTCTTGGTTCT	0.318													16	34					0	0	0.003954	0	0
C11orf54	28970	broad.mit.edu	37	11	93487129	93487129	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:93487129G>A	uc009ywi.2	+	6	587	c.256G>A	c.(256-258)GAA>AAA	p.E86K	C11orf54_uc001pee.1_Missense_Mutation_p.E86K|C11orf54_uc001pef.2_Missense_Mutation_p.E86K|C11orf54_uc001peg.2_Missense_Mutation_p.E86K|C11orf54_uc001peh.2_Missense_Mutation_p.E86K|C11orf54_uc001pei.2_Missense_Mutation_p.E67K|C11orf54_uc001pej.2_Missense_Mutation_p.E67K|C11orf54_uc001pek.2_5'UTR	NM_014039	NP_054758	Q9H0W9	CK054_HUMAN	hypothetical protein LOC28970	86						nucleus	hydrolase activity, acting on ester bonds|protein binding|zinc ion binding				0		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AATTGCAAAAGAAATCAAGCT	0.348													53	119					0	0	0.003610	0	0
HEPHL1	341208	broad.mit.edu	37	11	93837739	93837739	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:93837739G>A	uc001pep.2	+	16	2885	c.2728G>A	c.(2728-2730)GGA>AGA	p.G910R	uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1 precursor	910	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)				ATGCCGAAAAGGAGTCTTGAA	0.333													22	52					0	0	0.005443	0	0
HEPHL1	341208	broad.mit.edu	37	11	93844872	93844872	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:93844872G>A	uc001pep.2	+	20	3449	c.3292G>A	c.(3292-3294)GAG>AAG	p.E1098K	uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1 precursor	1098	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)				ACCTGGCAAAGAGCAGCTCTA	0.463													16	27					0	0	0.004007	0	0
CNTN5	53942	broad.mit.edu	37	11	100126527	100126527	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:100126527G>A	uc001pga.2	+	17	2380	c.2041G>A	c.(2041-2043)GAA>AAA	p.E681K	CNTN5_uc001pfz.2_Missense_Mutation_p.E681K|CNTN5_uc001pgb.2_Missense_Mutation_p.E607K|CNTN5_uc010ruk.1_5'UTR	NM_014361	NP_055176	O94779	CNTN5_HUMAN	contactin 5 isoform long	681	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			skin(3)|ovary(2)|pancreas(2)|breast(1)	8		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AATTGTTGAGGAAATAACCGA	0.478													22	77					0	0	0.003330	0	0
CNTN5	53942	broad.mit.edu	37	11	100169975	100169975	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:100169975G>A	uc001pga.2	+	20	2806	c.2467G>A	c.(2467-2469)GAA>AAA	p.E823K	CNTN5_uc001pfz.2_Missense_Mutation_p.E823K|CNTN5_uc001pgb.2_Missense_Mutation_p.E749K|CNTN5_uc010ruk.1_Missense_Mutation_p.E94K	NM_014361	NP_055176	O94779	CNTN5_HUMAN	contactin 5 isoform long	823	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			skin(3)|ovary(2)|pancreas(2)|breast(1)	8		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TGGCTGGAAGGAAAAAATGGT	0.408													14	27					0	0	0.003163	0	0
MMP12	4321	broad.mit.edu	37	11	102743711	102743711	+	Silent	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:102743711T>C	uc001phk.2	-	2	279	c.234A>G	c.(232-234)CAA>CAG	p.Q78Q		NM_002426	NP_002417	P39900	MMP12_HUMAN	matrix metalloproteinase 12 preproprotein	78					positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding				0		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	ATGTGTCCAGTTGCCCGGTCA	0.468													11	21					0	0	0.001855	0	0
ELMOD1	55531	broad.mit.edu	37	11	107535844	107535844	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:107535844G>A	uc010rvs.1	+	12	1330	c.926G>A	c.(925-927)AGG>AAG	p.R309K	ELMOD1_uc001pjm.2_Missense_Mutation_p.R301K|ELMOD1_uc010rvt.1_Missense_Mutation_p.R303K	NM_018712	NP_061182	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1 isoform 1	309	ELMO.				phagocytosis	cytoskeleton	GTPase activator activity				0		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		TTCCGCAAGAGGATCATCAAA	0.458													50	108					0	0	0.003610	0	0
NPAT	4863	broad.mit.edu	37	11	108043607	108043607	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:108043607G>A	uc001pjz.3	-	13	2206	c.2104C>T	c.(2104-2106)CCT>TCT	p.P702S	NPAT_uc010rvv.1_5'Flank|NPAT_uc001pka.2_Missense_Mutation_p.P497S	NM_002519	NP_002510	Q14207	NPAT_HUMAN	nuclear protein,  ataxia-telangiectasia locus	702					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			ovary(2)	2		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|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)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		GATTCTGGAGGAAGAGAGTGA	0.433													11	30					0	0	0.001855	0	0
ATM	472	broad.mit.edu	37	11	108175548	108175548	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:108175548C>T	uc001pkb.1	+	37	6028	c.5643C>T	c.(5641-5643)AGC>AGT	p.S1881S	ATM_uc009yxr.1_Silent_p.S1881S|ATM_uc001pke.1_Silent_p.S533S|ATM_uc001pkg.1_Silent_p.S238S|ATM_uc009yxt.1_Missense_Mutation_p.P25S	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	1881					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)		CGCAAACGAGCCGATCCACAA	0.363			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)			13	30					0	0	0.001368	0	0
ATM	472	broad.mit.edu	37	11	108236211	108236211	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:108236211C>T	uc001pkb.1	+	63	9532	c.9147C>T	c.(9145-9147)TTC>TTT	p.F3049F	ATM_uc009yxr.1_Silent_p.F3049F|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Silent_p.F1701F	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	3049	FATC.				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)		GCCGACTTTTCCCAGGATGGA	0.413			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)			15	24					0	0	0.004007	0	0
EXPH5	23086	broad.mit.edu	37	11	108383402	108383402	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:108383402C>T	uc001pkk.2	-	6	2943	c.2832G>A	c.(2830-2832)GAG>GAA	p.E944E	EXPH5_uc010rvy.1_Silent_p.E756E|EXPH5_uc010rvz.1_Silent_p.E788E|EXPH5_uc010rwa.1_Silent_p.E868E	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5 isoform a	944					intracellular protein transport		Rab GTPase binding			skin(3)|ovary(2)	5		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TATCATTTCTCTCTTGGTTTT	0.393													57	144					0	0	0.003610	0	0
C11orf53	341032	broad.mit.edu	37	11	111156615	111156615	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:111156615C>T	uc001plc.2	+	4	694	c.547C>T	c.(547-549)CCC>TCC	p.P183S		NM_198498	NP_940900	Q8IXP5	CK053_HUMAN	hypothetical protein LOC341032	183											0		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		GCCTCCTTACCCCTTCACCCC	0.607													20	35					0	0	0.005443	0	0
BCO2	83875	broad.mit.edu	37	11	112086944	112086944	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:112086944T>C	uc001pnf.2	+	11	1634	c.1517T>C	c.(1516-1518)GTT>GCT	p.V506A	BCO2_uc001png.2_Missense_Mutation_p.V433A|BCO2_uc001pnh.2_Missense_Mutation_p.V472A|BCO2_uc010rwt.1_Missense_Mutation_p.V401A|BCO2_uc009yyn.2_Missense_Mutation_p.V466A|BCO2_uc001pni.2_Missense_Mutation_p.V472A	NM_031938	NP_114144	Q9BYV7	BCDO2_HUMAN	beta-carotene dioxygenase 2 isoform a	506					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						GACTTGCAGGTTTGGAGAGAA	0.408													28	68					0	0	0.001786	0	0
ANKK1	255239	broad.mit.edu	37	11	113266842	113266842	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:113266842C>A	uc001pny.2	+	5	830	c.736C>A	c.(736-738)CTA>ATA	p.L246I		NM_178510	NP_848605	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	246	Protein kinase.						ATP binding|protein serine/threonine kinase activity			lung(5)|stomach(1)|ovary(1)|breast(1)	8		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		GCGGCCCTCCCTACAGCCTGT	0.582													19	57					1.01871e-10	1.32907e-10	0.008871	1	0
TMPRSS5	80975	broad.mit.edu	37	11	113567668	113567668	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:113567668G>A	uc001poc.3	-	6	612	c.490C>T	c.(490-492)CTC>TTC	p.L164F	TMPRSS5_uc009yys.2_Missense_Mutation_p.L155F|TMPRSS5_uc009yyt.2_Missense_Mutation_p.L120F|TMPRSS5_uc001pod.3_5'UTR|TMPRSS5_uc010rww.1_Missense_Mutation_p.L154F|TMPRSS5_uc009yyu.2_5'UTR|TMPRSS5_uc010rwx.1_Missense_Mutation_p.L120F	NM_030770	NP_110397	Q9H3S3	TMPS5_HUMAN	transmembrane protease, serine 5	164	SRCR.|Extracellular (Potential).				proteolysis	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			ovary(1)	1		all_cancers(61;2.71e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.75e-06)|Epithelial(105;6.34e-05)|all cancers(92;0.000502)		ATGTCAGTGAGGTTTACTCCC	0.478													3	5					0	0	0.004672	0	0
DSCAML1	57453	broad.mit.edu	37	11	117329477	117329477	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:117329477C>T	uc001prh.1	-	19	3743	c.3741G>A	c.(3739-3741)AAG>AAA	p.K1247K		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1187	Extracellular (Potential).				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CACCGTCCTCCTTGGTCTGGA	0.647													7	19					0	0	0.003080	0	0
UPK2	7379	broad.mit.edu	37	11	118827130	118827130	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:118827130G>A	uc001puh.2	+	1	105	c.70G>A	c.(70-72)GCT>ACT	p.A24T		NM_006760	NP_006751	O00526	UPK2_HUMAN	uroplakin 2 precursor	24					cellular membrane organization|epithelial cell differentiation|multicellular organismal development	integral to endoplasmic reticulum membrane|integral to plasma membrane				skin(1)	1	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)		GTCCCCAGGGGCTGCAGGTCT	0.637													11	29					0	0	0.001855	0	0
DPAGT1	1798	broad.mit.edu	37	11	118969169	118969169	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:118969169G>A	uc001pvi.2	-	5	1092	c.672C>T	c.(670-672)TCC>TCT	p.S224S	H2AFX_uc001pvg.2_5'Flank|DPAGT1_uc001pvj.2_Silent_p.S117S|DPAGT1_uc009zaq.2_RNA|DPAGT1_uc001pvk.2_Silent_p.S52S|DPAGT1_uc010ryz.1_Silent_p.S224S|DPAGT1_uc001pvm.1_Silent_p.S117S|DPAGT1_uc010rza.1_Silent_p.S117S	NM_001382	NP_001373	Q9H3H5	GPT_HUMAN	UDP-N-acetylglucosamine-dolichyl-phosphate	224	Dolichol recognition.|Helical; (Potential).				dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity			breast(2)|ovary(1)	3	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		TGAAGTAGAGGGAAAAGACAT	0.433													23	58					0	0	0.004656	0	0
PDZD3	79849	broad.mit.edu	37	11	119056947	119056947	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:119056947C>T	uc001pwb.2	+	2	600	c.76C>T	c.(76-78)CTT>TTT	p.L26F	PDZD3_uc001pvy.2_Intron|PDZD3_uc001pvz.2_Intron|PDZD3_uc010rzd.1_Missense_Mutation_p.L26F|PDZD3_uc001pwa.2_Intron			Q86UT5	NHRF4_HUMAN	RecName: Full=Na(+)/H(+) exchange regulatory cofactor NHE-RF4;          Short=NHERF-4; AltName: Full=PDZ domain-containing protein 3; AltName: Full=PDZ domain-containing protein 2; AltName: Full=Intestinal and kidney-enriched PDZ protein; AltName: Full=Sodium-hydrogen exchanger regulatory factor 4;	26					cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding			breast(1)	1	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		CTCCGATCTCCTTGGTAACCA	0.607													14	14					0	0	0.001855	0	0
TRIM29	23650	broad.mit.edu	37	11	119996561	119996561	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:119996561G>A	uc001pwz.2	-	4	1295	c.1171C>T	c.(1171-1173)CCA>TCA	p.P391S	TRIM29_uc001pwy.2_5'Flank|TRIM29_uc010rzi.1_Missense_Mutation_p.P130S|TRIM29_uc010rzj.1_Missense_Mutation_p.P124S|TRIM29_uc001pxa.2_RNA	NM_012101	NP_036233	Q14134	TRI29_HUMAN	tripartite motif protein TRIM29	391					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|breast(1)|kidney(1)|skin(1)	4		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		GGCAGGGGTGGGGGGAGAGAG	0.532													13	32					0	0	0.002450	0	0
SORL1	6653	broad.mit.edu	37	11	121414426	121414426	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:121414426G>A	uc001pxx.2	+	13	1935	c.1855G>A	c.(1855-1857)GAT>AAT	p.D619N		NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	619	Extracellular (Potential).				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CAATGCCACGGATGCCTTGGG	0.512													34	51					0	0	0.003755	0	0
SORL1	6653	broad.mit.edu	37	11	121448082	121448082	+	Missense_Mutation	SNP	G	A	A	rs35026022		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:121448082G>A	uc001pxx.2	+	25	3633	c.3553G>A	c.(3553-3555)GAC>AAC	p.D1185N	SORL1_uc010rzp.1_Missense_Mutation_p.D31N	NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	1185	Extracellular (Potential).|LDL-receptor class A 3.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CGACTGCAGGGACTGGTCTGA	0.522													41	49					0	0	0.008740	0	0
OR6M1	390261	broad.mit.edu	37	11	123676588	123676589	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:123676588_123676589GG>AA	uc010rzz.1	-	1	469_470	c.469_470CC>TT	c.(469-471)CCA>TTA	p.P157L		NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M,	157	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		TACAATGGTTGGAAACAACACA	0.485													18	27					0	0	0.004672	0	0
OR6T1	219874	broad.mit.edu	37	11	123813845	123813845	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:123813845C>T	uc010sab.1	-	1	701	c.701G>A	c.(700-702)CGA>CAA	p.R234Q		NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T,	234	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CGCTTTCCTTCGCTCAGCAGC	0.517													19	35					0	0	0.006122	0	0
OR10S1	219873	broad.mit.edu	37	11	123847940	123847940	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:123847940C>T	uc001pzm.1	-	1	459	c.459G>A	c.(457-459)AGG>AGA	p.R153R		NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S,	153	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CTGCACACATCCTTCTGTTCA	0.572													13	33					0	0	0.003163	0	0
OR10G8	219869	broad.mit.edu	37	11	123900559	123900559	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:123900559C>T	uc001pzp.1	+	1	230	c.230C>T	c.(229-231)CCC>CTC	p.P77L		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G,	77	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GTCACGGTGCCCAAATTGCTG	0.527													22	55					0	0	0.001882	0	0
VWA5A	4013	broad.mit.edu	37	11	124013187	124013187	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:124013187C>T	uc001pzu.2	+	17	2271	c.2062C>T	c.(2062-2064)CAA>TAA	p.Q688*	VWA5A_uc001pzt.2_Nonsense_Mutation_p.Q688*	NM_001130142	NP_001123614	O00534	VMA5A_HUMAN	BCSC-1 isoform 1	688										upper_aerodigestive_tract(1)|ovary(1)	2						GATTTACCACCAAAATGCAAA	0.443													30	53					0	0	0.002096	0	0
OR8B8	26493	broad.mit.edu	37	11	124310205	124310205	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:124310205G>T	uc010sal.1	-	1	777	c.777C>A	c.(775-777)TAC>TAA	p.Y259*		NM_012378	NP_036510	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B,	259	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		AGGGTTTGAGGTACATGAATG	0.473													22	44					1.96292e-10	2.55904e-10	0.001523	1	0
OR8A1	390275	broad.mit.edu	37	11	124440091	124440091	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:124440091C>T	uc010san.1	+	1	127	c.127C>T	c.(127-129)CCC>TCC	p.P43S		NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A,	43	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		CCTCCAGCTCCCCCTCTTTCT	0.532													29	51					0	0	0.002445	0	0
PANX3	116337	broad.mit.edu	37	11	124489711	124489711	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:124489711G>A	uc001qah.2	+	4	1059	c.1059G>A	c.(1057-1059)AAG>AAA	p.K353K		NM_052959	NP_443191	Q96QZ0	PANX3_HUMAN	pannexin 3	353	Cytoplasmic (Potential).				protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity				0	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		GTGTGTTGAAGGATACAACCA	0.438													35	76					0	0	0.004289	0	0
SPA17	53340	broad.mit.edu	37	11	124545175	124545175	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:124545175C>T	uc001qap.2	+	2	151	c.15C>T	c.(13-15)TTC>TTT	p.F5F	SIAE_uc001qan.2_5'Flank|SIAE_uc001qao.1_5'Flank	NM_017425	NP_059121	Q15506	SP17_HUMAN	sperm autoantigenic protein 17	5					binding of sperm to zona pellucida|ciliary or flagellar motility|signal transduction|spermatogenesis	cytoplasm|flagellum|membrane|motile cilium|primary cilium	cAMP-dependent protein kinase regulator activity				0	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223)		CGATTCCATTCTCCAACACCC	0.398													35	73					0	0	0.006999	0	0
VSIG2	23584	broad.mit.edu	37	11	124618586	124618586	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:124618586G>A	uc001qas.2	-	5	736	c.660C>T	c.(658-660)ACC>ACT	p.T220T	VSIG2_uc001qat.2_Silent_p.T220T	NM_014312	NP_055127	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	220	Extracellular (Potential).|Ig-like C2-type.					integral to plasma membrane|membrane fraction				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		CCATCTGGTTGGTGGCCACAC	0.602													9	26					0	0	0.006214	0	0
ROBO4	54538	broad.mit.edu	37	11	124765494	124765494	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:124765494C>T	uc001qbg.2	-	6	1035	c.895G>A	c.(895-897)GAG>AAG	p.E299K	ROBO4_uc010sas.1_Missense_Mutation_p.E154K|ROBO4_uc001qbh.2_Missense_Mutation_p.E189K|ROBO4_uc001qbi.2_5'Flank|ROBO4_uc010sat.1_5'Flank	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	roundabout homolog 4, magic roundabout	299	Fibronectin type-III 1.				angiogenesis|cell differentiation	integral to membrane	receptor activity			ovary(1)|skin(1)	2	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		AGCAGCTCCTCTGCCCACGGA	0.657													29	53					0	0	0.002445	0	0
SLC37A2	219855	broad.mit.edu	37	11	124951800	124951800	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:124951800C>T	uc001qbn.2	+	9	1134	c.883C>T	c.(883-885)CCA>TCA	p.P295S	SLC37A2_uc010sau.1_Missense_Mutation_p.P295S|SLC37A2_uc010sav.1_5'Flank|SLC37A2_uc001qbp.2_5'Flank	NM_001145290	NP_001138762	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glycerol-3-phosphate	295					carbohydrate transport|transmembrane transport	integral to membrane				ovary(2)	2	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		GCTCCGGATCCCAGTAAGAAG	0.512													17	29					0	0	0.001523	0	0
KCNJ1	3758	broad.mit.edu	37	11	128709860	128709860	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:128709860G>A	uc001qeo.1	-	2	387	c.336C>T	c.(334-336)TTC>TTT	p.F112F	KCNJ1_uc001qep.1_Silent_p.F93F|KCNJ1_uc001qeq.1_Silent_p.F93F|KCNJ1_uc001qer.1_Silent_p.F93F|KCNJ1_uc001qes.1_Silent_p.F93F	NM_000220	NP_000211	P48048	IRK1_HUMAN	potassium inwardly-rectifying channel J1 isoform	112	Extracellular (By similarity).				excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			ovary(3)|breast(1)	4	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	CAGAAGGATGGAATTCCGGGA	0.443													17	34					0	0	0.004007	0	0
BARX2	8538	broad.mit.edu	37	11	129312769	129312769	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:129312769G>T	uc001qfc.3	+	3	578	c.528G>T	c.(526-528)CAG>CAT	p.Q176H		NM_003658	NP_003649	Q9UMQ3	BARX2_HUMAN	BarH-like homeobox 2	176	Homeobox.										0	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		CTCAGCTGCAGGTGAAGACCT	0.488													44	96					1.67211e-32	2.1953e-32	0.003610	1	0
PRDM10	56980	broad.mit.edu	37	11	129795112	129795112	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:129795112G>A	uc001qfm.2	-	13	1787	c.1555C>T	c.(1555-1557)CAG>TAG	p.Q519*	PRDM10_uc001qfj.2_Nonsense_Mutation_p.Q433*|PRDM10_uc001qfk.2_Nonsense_Mutation_p.Q429*|PRDM10_uc001qfl.2_Nonsense_Mutation_p.Q433*|PRDM10_uc010sbx.1_Nonsense_Mutation_p.Q429*|PRDM10_uc001qfn.2_Nonsense_Mutation_p.Q515*	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	PR domain containing 10 isoform 1	519					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1	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)		AACAGATGCTGAAGAGCTGCA	0.433													18	31					0	0	0.006122	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130341141	130341141	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:130341141C>T	uc010scd.1	+	7	1941	c.1941C>T	c.(1939-1941)TCC>TCT	p.S647S		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	a disintegrin-like and metalloprotease	647	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(2)|pancreas(1)|lung(1)|skin(1)	5	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		ACTCCACCTCCGTCTGTGTCC	0.587													9	20					0	0	0.004482	0	0
OPCML	4978	broad.mit.edu	37	11	132307126	132307126	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:132307126G>A	uc001qgs.2	-	4	704	c.654C>T	c.(652-654)ATC>ATT	p.I218I	OPCML_uc001qgu.2_Silent_p.I211I|OPCML_uc010sck.1_Silent_p.I218I|OPCML_uc001qgt.2_Silent_p.I217I|OPCML_uc010scl.1_Silent_p.I177I	NM_002545	NP_002536	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion	218	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			ovary(2)|skin(1)	3	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		AGTTTACAGTGATTTTTACTT	0.537													15	52					0	0	0.007413	0	0
SPATA19	219938	broad.mit.edu	37	11	133714505	133714505	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:133714505C>T	uc001qgv.1	-	3	217	c.166G>A	c.(166-168)GAA>AAA	p.E56K		NM_174927	NP_777587	Q7Z5L4	SPT19_HUMAN	spermatogenesis associated 19 precursor	56					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane					0	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		GACAGCTTTTCCTTTATGCCC	0.522													16	49					0	0	0.004990	0	0
IGSF9B	22997	broad.mit.edu	37	11	133791010	133791010	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:133791010C>T	uc001qgx.3	-	18	2841	c.2610G>A	c.(2608-2610)AAG>AAA	p.K870K		NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	870	Cytoplasmic (Potential).					integral to membrane|plasma membrane					0	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		TGCGCCTGCTCTTCAGCGAGG	0.662													22	61					0	0	0.003330	0	0
GLB1L2	89944	broad.mit.edu	37	11	134241356	134241356	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:134241356G>A	uc001qhp.2	+	14	1586	c.1398G>A	c.(1396-1398)AAG>AAA	p.K466K	GLB1L2_uc009zdg.1_RNA	NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2 precursor	466					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(1)|pancreas(1)|skin(1)	3	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		TGGACTACAAGACAACGAAGA	0.542													26	93					0	0	0.008361	0	0
B3GAT1	27087	broad.mit.edu	37	11	134251915	134251915	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:134251915G>A	uc001qhq.2	-	6	1183	c.922C>T	c.(922-924)CTG>TTG	p.L308L	B3GAT1_uc001qhr.2_Silent_p.L308L|B3GAT1_uc010scv.1_Silent_p.L321L	NM_018644	NP_061114	Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	308	Lumenal (Potential).				carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			ovary(1)	1	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		TGCCACACCAGGATCTGTGTG	0.577													17	37					0	0	0.001882	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1967746	1967746	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:1967746C>T	uc001qjp.2	-	20	2236	c.2005G>A	c.(2005-2007)GAA>AAA	p.E669K	CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Missense_Mutation_p.E533K	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	voltage-gated calcium channel alpha(2)delta-4	669	Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			ovary(1)	1	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GACCCACCTTCTTCCACAGAC	0.582													13	25					0	0	0.002450	0	0
CACNA1C	775	broad.mit.edu	37	12	2714934	2714934	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:2714934C>T	uc009zdu.1	+	25	3511	c.3198C>T	c.(3196-3198)ATC>ATT	p.I1066I	CACNA1C_uc009zdv.1_Silent_p.I1043I|CACNA1C_uc001qkb.2_Silent_p.I1046I|CACNA1C_uc001qkc.2_Silent_p.I1046I|CACNA1C_uc001qke.2_Silent_p.I1046I|CACNA1C_uc001qkf.2_Silent_p.I1046I|CACNA1C_uc001qjz.2_Silent_p.I1046I|CACNA1C_uc001qkd.2_Silent_p.I1046I|CACNA1C_uc001qkg.2_Silent_p.I1046I|CACNA1C_uc009zdw.1_Silent_p.I1046I|CACNA1C_uc001qkh.2_Silent_p.I1046I|CACNA1C_uc001qkl.2_Silent_p.I1066I|CACNA1C_uc001qkn.2_Silent_p.I1046I|CACNA1C_uc001qko.2_Silent_p.I1066I|CACNA1C_uc001qkp.2_Silent_p.I1046I|CACNA1C_uc001qkr.2_Silent_p.I1046I|CACNA1C_uc001qku.2_Silent_p.I1046I|CACNA1C_uc001qkq.2_Silent_p.I1046I|CACNA1C_uc001qks.2_Silent_p.I1046I|CACNA1C_uc001qkt.2_Silent_p.I1046I|CACNA1C_uc001qka.1_Silent_p.I581I|CACNA1C_uc001qki.1_Silent_p.I782I|CACNA1C_uc001qkj.1_Silent_p.I782I|CACNA1C_uc001qkk.1_Silent_p.I782I|CACNA1C_uc001qkm.1_Silent_p.I782I	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	1066	III.|Helical; Name=S5 of repeat III; (Potential).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TTGCCTGCATCGGGGTCCAGC	0.552													12	33					0	0	0.001368	0	0
CACNA1C	775	broad.mit.edu	37	12	2797631	2797631	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:2797631C>T	uc009zdu.1	+	49	6365	c.6052C>T	c.(6052-6054)CTG>TTG	p.L2018L	CACNA1C_uc009zdv.1_Silent_p.L1932L|CACNA1C_uc001qkb.2_Silent_p.L1935L|CACNA1C_uc001qkc.2_Silent_p.L1954L|CACNA1C_uc001qke.2_Silent_p.L1924L|CACNA1C_uc001qkf.2_Silent_p.L1943L|CACNA1C_uc001qjz.2_Silent_p.L1935L|CACNA1C_uc001qkd.2_Silent_p.L1954L|CACNA1C_uc001qkg.2_Silent_p.L1941L|CACNA1C_uc009zdw.1_Silent_p.L1976L|CACNA1C_uc001qkh.2_Silent_p.L1943L|CACNA1C_uc001qkl.2_Silent_p.L1983L|CACNA1C_uc001qkn.2_Silent_p.L1935L|CACNA1C_uc001qko.2_Silent_p.L1955L|CACNA1C_uc001qkp.2_Silent_p.L1935L|CACNA1C_uc001qkr.2_Silent_p.L1952L|CACNA1C_uc001qku.2_Silent_p.L1970L|CACNA1C_uc001qkq.2_Silent_p.L1963L|CACNA1C_uc001qks.2_Silent_p.L1935L|CACNA1C_uc001qkt.2_Silent_p.L1954L|CACNA1C_uc001qki.1_Silent_p.L1742L|CACNA1C_uc001qkj.1_Silent_p.L1706L|CACNA1C_uc001qkk.1_Silent_p.L1671L|CACNA1C_uc001qkm.1_Silent_p.L1731L|CACNA1C_uc010sea.1_Silent_p.L626L|uc001qkx.1_Intron|CACNA1C_uc001qky.1_Silent_p.L253L	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	2018	Cytoplasmic (Potential).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	AGTGGCAGGCCTGAGCCCCCT	0.632													15	50					0	0	0.004990	0	0
FOXM1	2305	broad.mit.edu	37	12	2968099	2968099	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:2968099C>T	uc001qlf.2	-	9	2262	c.1997G>A	c.(1996-1998)AGT>AAT	p.S666N	uc001qld.2_Intron|FOXM1_uc001qle.2_Missense_Mutation_p.S704N|FOXM1_uc001qlg.2_Missense_Mutation_p.S651N|FOXM1_uc009zea.2_Missense_Mutation_p.S651N|FOXM1_uc009zeb.2_Missense_Mutation_p.S650N	NM_021953	NP_068772	Q08050	FOXM1_HUMAN	forkhead box M1 isoform 2	666					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			central_nervous_system(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			GGGGGGAGCACTTTGCAAGGG	0.577													21	38					0	0	0.008871	0	0
FGF23	8074	broad.mit.edu	37	12	4479634	4479634	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:4479634G>A	uc001qmq.1	-	3	777	c.631C>T	c.(631-633)CCG>TCG	p.P211S		NM_020638	NP_065689	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23 precursor	211					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			ovary(2)|breast(1)|skin(1)	4			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			TCGGCGCTCGGGAGCTCCTGT	0.716													13	27					0	0	0.001855	0	0
FGF6	2251	broad.mit.edu	37	12	4553335	4553335	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:4553335G>A	uc001qmr.1	-	2	458	c.414C>T	c.(412-414)TTC>TTT	p.F138F		NM_020996	NP_066276	P10767	FGF6_HUMAN	fibroblast growth factor 6 precursor	138					angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	growth factor activity			lung(2)|ovary(1)	3			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			TCATGGCAACGAAGAGGGCAC	0.517													15	44					0	0	0.004990	0	0
GALNT8	26290	broad.mit.edu	37	12	4870257	4870257	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:4870257G>A	uc001qne.1	+	7	1399	c.1307G>A	c.(1306-1308)TGG>TAG	p.W436*		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	436	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)|pancreas(1)|skin(1)	4						GCCGAAATCTGGATGGATGAG	0.542													27	40					0	0	0.001786	0	0
KCNA5	3741	broad.mit.edu	37	12	5154998	5154998	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:5154998C>T	uc001qni.2	+	1	1914	c.1685C>T	c.(1684-1686)TCC>TTC	p.S562F		NM_002234	NP_002225	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related	562						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(2)|breast(2)	4						AGCAGGGGATCCTTCTGCAAG	0.642													13	26					0	0	0.001855	0	0
SCNN1A	6337	broad.mit.edu	37	12	6457279	6457279	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:6457279G>A	uc001qnx.2	-	13	2059	c.1770C>T	c.(1768-1770)AGC>AGT	p.S590S	SCNN1A_uc001qnv.2_Silent_p.S290S|SCNN1A_uc001qnw.2_Silent_p.S649S|SCNN1A_uc010sfb.1_Silent_p.S613S	NM_001038	NP_001029	P37088	SCNNA_HUMAN	sodium channel, nonvoltage-gated 1 alpha isoform	590	Cytoplasmic (By similarity).				excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding				0					Amiloride(DB00594)|Triamterene(DB00384)	ACCAGTATCGGCTTCGGAACC	0.433													8	18					0	0	0.003080	0	0
CHD4	1108	broad.mit.edu	37	12	6703773	6703773	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:6703773G>A	uc001qpo.2	-	15	2329	c.2165C>T	c.(2164-2166)ACA>ATA	p.T722I	CHD4_uc001qpn.2_Missense_Mutation_p.T715I|CHD4_uc001qpp.2_Missense_Mutation_p.T719I	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	722					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						GGTTCCACCTGTAGCATCCAG	0.542													22	50					0	0	0.003330	0	0
ACRBP	84519	broad.mit.edu	37	12	6753565	6753565	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:6753565C>T	uc001qpu.1	-	5	730	c.682G>A	c.(682-684)GAG>AAG	p.E228K	ACRBP_uc010sfg.1_Missense_Mutation_p.E195K	NM_032489	NP_115878	Q8NEB7	ACRBP_HUMAN	proacrosin binding protein sp32 precursor	228						acrosomal vesicle|extracellular region				central_nervous_system(1)	1						tttccctcctcttcctgttcc	0.284													9	22					0	0	0.004482	0	0
C1S	716	broad.mit.edu	37	12	7177206	7177206	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:7177206G>A	uc001qsj.2	+	15	2037	c.1318G>A	c.(1318-1320)GGA>AGA	p.G440R	C1S_uc001qsk.2_Missense_Mutation_p.G440R|C1S_uc001qsl.2_Missense_Mutation_p.G440R|C1S_uc009zfr.2_Missense_Mutation_p.G273R|C1S_uc009zfs.2_RNA	NM_201442	NP_958850	P09871	C1S_HUMAN	complement component 1, s subcomponent	440	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			skin(1)	1					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GAGGATAATTGGAGGATCCGA	0.478													33	58					0	0	0.005524	0	0
RBP5	83758	broad.mit.edu	37	12	7280959	7280959	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:7280959G>A	uc001qsq.2	-	2	224	c.129C>T	c.(127-129)ATC>ATT	p.I43I	CLSTN3_uc001qsr.2_5'Flank	NM_031491	NP_113679	P82980	RET5_HUMAN	retinol binding protein 5, cellular	43						cytoplasm	retinal binding|retinol binding|transporter activity			ovary(1)	1					Vitamin A(DB00162)	CCTGGTGTTCGATCTCCTTGT	0.582													20	36					0	0	0.003954	0	0
CD163L1	283316	broad.mit.edu	37	12	7586192	7586192	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:7586192C>T	uc001qsy.2	-	3	249	c.223G>A	c.(223-225)GAT>AAT	p.D75N	CD163L1_uc010sge.1_Missense_Mutation_p.D75N	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	scavenger receptor cysteine-rich type 1	75	SRCR 1.|Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|skin(2)|central_nervous_system(1)	11						TTCCACCCATCATCACACACA	0.512													35	70					0	0	0.005524	0	0
CD163	9332	broad.mit.edu	37	12	7640255	7640255	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:7640255G>A	uc001qsz.3	-	8	1878	c.1750C>T	c.(1750-1752)CGC>TGC	p.R584C	CD163_uc001qta.3_Missense_Mutation_p.R584C|CD163_uc009zfw.2_Missense_Mutation_p.R617C	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	CD163 antigen isoform a	584	SRCR 6.|Extracellular (Potential).				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			ovary(6)|pancreas(1)|skin(1)	8						TTCACCAAGCGAATTTCTGTG	0.488													27	46					0	0	0.007291	0	0
DPPA3	359787	broad.mit.edu	37	12	7867807	7867807	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:7867807G>A	uc001qtf.2	+	2	189	c.111G>A	c.(109-111)TTG>TTA	p.L37L		NM_199286	NP_954980	Q6W0C5	DPPA3_HUMAN	stella	37						cytoplasm|nucleus					0				Kidney(36;0.0887)		CCGAGACGTTGATAAAGAACC	0.458													51	75					0	0	0.003610	0	0
AICDA	57379	broad.mit.edu	37	12	8758041	8758041	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:8758041G>A	uc001qur.2	-	3	276	c.197C>T	c.(196-198)TCG>TTG	p.S66L	AICDA_uc001qup.1_Missense_Mutation_p.S61L|AICDA_uc001quq.1_Missense_Mutation_p.S61L|AICDA_uc009zgd.1_Intron	NM_020661	NP_065712	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	66					B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding			ovary(1)|pancreas(1)	2	Lung SC(5;0.184)					GTCCCAGTCCGAGATGTAGCG	0.587									Immune_Deficiency_with_Hyper-IgM				15	46					0	0	0.004007	0	0
RIMKLB	57494	broad.mit.edu	37	12	8926281	8926282	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:8926281_8926282CC>TT	uc001quu.2	+	6	1313_1314	c.1062_1063CC>TT	c.(1060-1065)GACCCT>GATTCT	p.P355S	RIMKLB_uc009zgf.1_Intron|RIMKLB_uc001qux.2_Missense_Mutation_p.P355S|RIMKLB_uc010sgl.1_Missense_Mutation_p.P355S|RIMKLB_uc001quw.2_Intron	NM_020734	NP_065785	Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family	355					protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding				0						TTGACAGCGACCCTGAAAGCAC	0.564													24	89					0	0	0.004672	0	0
A2ML1	144568	broad.mit.edu	37	12	8995898	8995898	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:8995898G>A	uc001quz.3	+	12	1515	c.1417G>A	c.(1417-1419)GAT>AAT	p.D473N	A2ML1_uc001qva.1_Missense_Mutation_p.D53N|A2ML1_uc010sgm.1_5'Flank	NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN	alpha-2-macroglobulin-like 1 precursor	317						extracellular space	endopeptidase inhibitor activity			ovary(2)|skin(1)	3						AGTGCTGGTGGATTATTACAT	0.582													14	45					0	0	0.003163	0	0
PZP	5858	broad.mit.edu	37	12	9305511	9305511	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:9305511C>T	uc001qvl.2	-	31	4059	c.4030G>A	c.(4030-4032)GAC>AAC	p.D1344N	PZP_uc009zgl.2_Missense_Mutation_p.D1130N	NM_002864	NP_002855			pregnancy-zone protein precursor											ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						AATGGGGAGTCCTCTTTCTCT	0.443													27	64					0	0	0.003954	0	0
GABARAPL1	23710	broad.mit.edu	37	12	10374416	10374416	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:10374416G>C	uc001qxs.2	+	4	559	c.319G>C	c.(319-321)GTG>CTG	p.V107L	GABARAPL1_uc001qxt.2_RNA|GABARAPL1_uc001qxu.2_RNA	NM_031412	NP_113600	Q9H0R8	GBRL1_HUMAN	GABA(A) receptor-associated protein like 1	107						autophagic vacuole|endoplasmic reticulum|Golgi apparatus|membrane|microtubule	beta-tubulin binding|GABA receptor binding				0						TTTTCTGTATGTGGCCTACAG	0.393													3	60					0	0	0.000248	0	0
GRIN2B	2904	broad.mit.edu	37	12	13761739	13761739	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:13761739C>T	uc001rbt.2	-	9	1987	c.1808G>A	c.(1807-1809)GGC>GAC	p.G603D		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	603	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)	AATAGCTTTGCCGATGGTGAA	0.502													11	35					0	0	0.008291	0	0
GUCY2C	2984	broad.mit.edu	37	12	14774018	14774018	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:14774018G>A	uc001rcd.2	-	23	2871	c.2734C>T	c.(2734-2736)CTT>TTT	p.L912F		NM_004963	NP_004954	P25092	GUC2C_HUMAN	guanylate cyclase 2C precursor	912	Cytoplasmic (Potential).|Guanylate cyclase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			ovary(4)|skin(2)	6						AGGCCAGGAAGATGCTCCAGC	0.473													17	42					0	0	0.007413	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21229479	21229479	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:21229479G>A	uc010sil.1	+	15	2089	c.2024G>A	c.(2023-2025)AGG>AAG	p.R675K	LST-3TM12_uc010sim.1_Missense_Mutation_p.R614K|LST-3TM12_uc010sin.1_Missense_Mutation_p.R567K			Q9NPD5	SO1B3_HUMAN	SubName: Full=Liver-specific organic anion transporter 3TM13; SubName: Full=Organic anion transporter LST-3c;	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			large_intestine(2)|ovary(1)|skin(1)	4	Esophageal squamous(101;0.149)					GGGGCTTGTAGGATATATAAT	0.348													68	131					0	0	0.003610	0	0
GOLT1B	51026	broad.mit.edu	37	12	21661471	21661471	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:21661471T>G	uc001rez.2	+	3	431	c.272T>G	c.(271-273)ATT>AGT	p.I91S	GOLT1B_uc009zis.2_RNA|GOLT1B_uc009zit.2_RNA|GOLT1B_uc009ziu.2_Intron	NM_016072	NP_057156	Q9Y3E0	GOT1B_HUMAN	golgi transport 1 homolog B	91	Phe-rich.|Helical; Name=4; (Potential).				positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport|vesicle-mediated transport	endoplasmic reticulum|Golgi membrane|integral to membrane	signal transducer activity				0						ATCTTCGAAATTTATGGATTT	0.338													21	65					0	0	0.002299	0	0
BCAT1	586	broad.mit.edu	37	12	25031472	25031472	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:25031472C>T	uc001rgd.3	-	5	944	c.502G>A	c.(502-504)GGA>AGA	p.G168R	BCAT1_uc001rgc.2_Missense_Mutation_p.G167R|BCAT1_uc010six.1_Missense_Mutation_p.G180R|BCAT1_uc010siy.1_Missense_Mutation_p.G131R|BCAT1_uc001rge.3_Missense_Mutation_p.G107R	NM_005504	NP_005495	P54687	BCAT1_HUMAN	branched chain aminotransferase 1, cytosolic	168					branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			lung(1)|breast(1)	2	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	ACCTCAGTTCCAATGAATGTA	0.373													12	33					0	0	0.001855	0	0
LRMP	4033	broad.mit.edu	37	12	25254256	25254256	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:25254256G>A	uc001rgh.2	+	15	1920	c.886G>A	c.(886-888)GAT>AAT	p.D296N	LRMP_uc010sja.1_Missense_Mutation_p.D296N|LRMP_uc010sjb.1_Missense_Mutation_p.D243N|LRMP_uc001rgi.2_RNA|LRMP_uc010sjc.1_Missense_Mutation_p.D296N|LRMP_uc010sjd.1_Missense_Mutation_p.D243N	NM_006152	NP_006143	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	352	Poly-Asp.|Cytoplasmic (Potential).				vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					TCTTGAAGATGATGGTAATAA	0.313													15	32					0	0	0.004990	0	0
C12orf11	55726	broad.mit.edu	37	12	27089526	27089526	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:27089526G>A	uc001rhk.3	-	2	748	c.211C>T	c.(211-213)CCT>TCT	p.P71S	C12orf11_uc010sjk.1_Intron|FGFR1OP2_uc001rhl.2_5'Flank|FGFR1OP2_uc001rhm.2_5'Flank|FGFR1OP2_uc001rhn.2_5'Flank	NM_018164	NP_060634	Q9NVM9	M89BB_HUMAN	hypothetical protein LOC55726	71					cell division|mitosis|regulation of mitotic cell cycle		protein binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	Colorectal(261;0.0847)					TTTTTGAAAGGAAATATATCA	0.323													9	14					0	0	0.006214	0	0
TMTC1	83857	broad.mit.edu	37	12	29786248	29786248	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:29786248G>A	uc001rjb.2	-	6	1110	c.636C>T	c.(634-636)CTC>CTT	p.L212L	TMTC1_uc001riz.2_5'UTR|TMTC1_uc001rja.2_Silent_p.L56L|TMTC1_uc001rjc.1_Silent_p.L274L	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat	320	Helical; (Potential).					integral to membrane	binding				0	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					TGAAGGCCAAGAGGTAGGAAT	0.463													18	35					0	0	0.001523	0	0
BICD1	636	broad.mit.edu	37	12	32491907	32491907	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:32491907C>T	uc001rku.2	+	8	2839	c.2758C>T	c.(2758-2760)CCA>TCA	p.P920S	BICD1_uc001rkv.2_Intron|BICD1_uc010skd.1_RNA	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 isoform 1	920					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)			AACCGTGGCTCCACCAGGTAA	0.502													12	37					0	0	0.001368	0	0
SYT10	341359	broad.mit.edu	37	12	33579230	33579230	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:33579230C>T	uc001rll.1	-	2	649	c.352G>A	c.(352-354)GAA>AAA	p.E118K	SYT10_uc009zju.1_5'UTR	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	118	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(1)|skin(1)	2	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TTTTCATTTTCCTTAATTTCT	0.408													42	85					0	0	0.006230	0	0
KIF21A	55605	broad.mit.edu	37	12	39760883	39760883	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:39760883G>A	uc001rly.2	-	5	830	c.684C>T	c.(682-684)GCC>GCT	p.A228A	KIF21A_uc001rlx.2_Silent_p.A228A|KIF21A_uc001rlz.2_Silent_p.A228A|KIF21A_uc010skl.1_Silent_p.A228A|KIF21A_uc001rma.1_Silent_p.A236A	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	228	Kinesin-motor.				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)				TGGTAAAAATGGCATGTGAAC	0.393													13	44					0	0	0.001855	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45458502	45458502	+	RNA	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:45458502C>T	uc001rol.2	-	1		c.693G>A				NR_026583				Homo sapiens FKSG42 (FKSG42) mRNA, complete cds.												0						ACTATGGATTCATTCCCCCTG	0.507													10	13					0	0	0.006214	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45458636	45458636	+	RNA	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:45458636G>A	uc001rol.2	-	1		c.559C>T				NR_026583				Homo sapiens FKSG42 (FKSG42) mRNA, complete cds.												0						CCAAAGAAGAGTCGCAATCCA	0.438													6	18					0	0	0.001984	0	0
SFRS2IP	9169	broad.mit.edu	37	12	46320912	46320912	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:46320912C>T	uc001rox.2	-	11	2859	c.2572G>A	c.(2572-2574)GAA>AAA	p.E858K	SFRS2IP_uc001row.2_Missense_Mutation_p.E543K|SFRS2IP_uc001roy.1_Missense_Mutation_p.E932K	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	splicing factor, arginine/serine-rich 2,	858	Arg-rich.				spliceosome assembly	nucleus	protein binding|zinc ion binding				0	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.209)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.1)		TGCCTCCTTTCTCTTGCAATA	0.448													42	113					0	0	0.003610	0	0
SLC38A2	54407	broad.mit.edu	37	12	46757533	46757533	+	Missense_Mutation	SNP	G	C	C	rs36065261	byFrequency	TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:46757533G>C	uc001rpg.2	-	12	1470	c.1030C>G	c.(1030-1032)CTC>GTC	p.L344V	SLC38A2_uc010sli.1_Missense_Mutation_p.L182V|SLC38A2_uc001rph.2_Missense_Mutation_p.L244V	NM_018976	NP_061849	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	344	Helical; (Potential).				cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	p.L344L(1)		urinary_tract(1)|skin(1)	2	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		TATCCAAAGAGGGCGGCAAGC	0.343													12	47					0	0	0.001855	0	0
FAM113B	91523	broad.mit.edu	37	12	47628996	47628996	+	Silent	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:47628996A>G	uc001rpn.2	+	4	881	c.150A>G	c.(148-150)GCA>GCG	p.A50A	FAM113B_uc010slj.1_Intron|FAM113B_uc001rpq.2_Silent_p.A50A	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	hypothetical protein LOC91523	50							hydrolase activity			skin(3)|ovary(2)	5	Renal(347;0.138)|Lung SC(27;0.192)					AGCTTAGAGCAAGGGGGGAGC	0.607													8	21					0	0	0.003080	0	0
VDR	7421	broad.mit.edu	37	12	48250947	48250947	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:48250947G>A	uc001rqm.2	-	7	830	c.548C>T	c.(547-549)TCC>TTC	p.S183F	VDR_uc001rql.2_Missense_Mutation_p.S233F|VDR_uc001rqn.2_Missense_Mutation_p.S183F|VDR_uc010slq.1_Missense_Mutation_p.S151F	NM_001017535	NP_001017535	P11473	VDR_HUMAN	vitamin D (1,25-dihydroxyvitamin D3) receptor	183	Hinge.				decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	GCAGGAGGAGGAGGAGTCCCC	0.582													10	14					0	0	0.006214	0	0
COL2A1	1280	broad.mit.edu	37	12	48383031	48383031	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:48383031G>A	uc001rqu.2	-	18	1283	c.1102C>T	c.(1102-1104)CCT>TCT	p.P368S	COL2A1_uc009zkw.2_5'Flank|COL2A1_uc001rqv.2_Missense_Mutation_p.P299S	NM_001844	NP_001835	P02458	CO2A1_HUMAN	collagen, type II, alpha 1 isoform 1 precursor	368	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GGAGCACCAGGGAAGCCAGGA	0.607													12	30					0	0	0.001855	0	0
ANP32D	23519	broad.mit.edu	37	12	48866508	48866508	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:48866508G>A	uc010slt.1	+	1	61	c.61G>A	c.(61-63)GAA>AAA	p.E21K		NM_012404	NP_036536	O95626	AN32D_HUMAN	acidic nuclear phosphoprotein 32D	21	LRR 1.									ovary(1)|central_nervous_system(1)	2						CGATGTGAAAGAACTTTTCCT	0.458													47	113					0	0	0.003214	0	0
DDX23	9416	broad.mit.edu	37	12	49237790	49237790	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:49237790G>A	uc001rsm.2	-	3	344	c.253C>T	c.(253-255)CGG>TGG	p.R85W		NM_004818	NP_004809	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	85	Arg-rich.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			kidney(3)|ovary(1)|lung(1)|skin(1)	6						TTCTTATTCCGATCCCGCTCC	0.488													69	178					0	0	0.003610	0	0
DDX23	9416	broad.mit.edu	37	12	49239535	49239535	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:49239535G>A	uc001rsm.2	-	2	122	c.31C>T	c.(31-33)CGT>TGT	p.R11C		NM_004818	NP_004809	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	11						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			kidney(3)|ovary(1)|lung(1)|skin(1)	6						GATGCATCACGGTCCTTTTTG	0.383													12	20					0	0	0.001855	0	0
MLL2	8085	broad.mit.edu	37	12	49433611	49433611	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:49433611G>A	uc001rta.3	-	31	7942	c.7942C>T	c.(7942-7944)CCA>TCA	p.P2648S		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	2648					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						CCAGTCCCTGGGTCTTCTCGC	0.602			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			14	18					0	0	0.003163	0	0
MLL2	8085	broad.mit.edu	37	12	49434302	49434302	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:49434302G>A	uc001rta.3	-	31	7251	c.7251C>T	c.(7249-7251)TCC>TCT	p.S2417S		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	2417	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						AGCTGGACTGGGACTGAGGAC	0.642			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			10	27					0	0	0.006214	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50190622	50190622	+	Missense_Mutation	SNP	C	T	T	rs34203986		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:50190622C>T	uc009zlk.2	-	8	1223	c.1021G>A	c.(1021-1023)GCC>ACC	p.A341T	NCKAP5L_uc001rvc.3_5'Flank|NCKAP5L_uc001rvb.2_5'UTR	NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	337	Pro-rich.									central_nervous_system(1)	1						GCCAGGAAGGCCTGTAGGTAA	0.657													8	19					0	0	0.004482	0	0
ATF1	466	broad.mit.edu	37	12	51207804	51207805	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:51207804_51207805CC>TT	uc001rww.3	+	5	618_619	c.340_341CC>TT	c.(340-342)CCA>TTA	p.P114L	ATF1_uc010smu.1_5'UTR	NM_005171	NP_005162	P18846	ATF1_HUMAN	activating transcription factor 1	114					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|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				EWSR1/ATF1(323)|FUS/ATF1(4)	soft_tissue(321)|ovary(2)|NS(2)|bone(2)|skin(2)	329						TGCCATTGCCCCAAATGGAGCC	0.396			T	EWSR1|FUS	malignant melanoma of soft parts |angiomatoid fibrous histiocytoma 								12	25					0	0	0.004672	0	0
GALNT6	11226	broad.mit.edu	37	12	51754508	51754508	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:51754508G>A	uc001ryk.2	-	6	1389	c.1164C>T	c.(1162-1164)TTC>TTT	p.F388F	GALNT6_uc009zma.1_Intron|GALNT6_uc001ryl.1_Silent_p.F388F|GALNT6_uc001ryj.1_5'Flank	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	388	Catalytic subdomain B.|Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)	2						CTCTCACCCGGAAGGACATTT	0.537													16	50					0	0	0.008871	0	0
GALNT6	11226	broad.mit.edu	37	12	51754511	51754511	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:51754511G>A	uc001ryk.2	-	6	1386	c.1161C>T	c.(1159-1161)TCC>TCT	p.S387S	GALNT6_uc009zma.1_Intron|GALNT6_uc001ryl.1_Silent_p.S387S|GALNT6_uc001ryj.1_5'Flank	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	387	Catalytic subdomain B.|Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)	2						TCACCCGGAAGGACATTTCCA	0.537													16	50					0	0	0.001523	0	0
KRT86	3892	broad.mit.edu	37	12	52699157	52699158	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:52699157_52699158GG>AA	uc010snq.1	+	6	1002_1003	c.869_870GG>AA	c.(868-870)CGG>CAA	p.R290Q	KRT86_uc009zmg.2_Missense_Mutation_p.R290Q|KRT81_uc001sac.2_Intron|KRT86_uc001sad.2_Missense_Mutation_p.R290Q	NM_002284	NP_002275	O43790	KRT86_HUMAN	keratin 86	290	Rod.|Coil 2.				cytoskeleton organization	keratin filament	structural molecule activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(357;0.189)		ACCCGTAGCCGGGCTGAGGCCG	0.55													18	42					0	0	0.004672	0	0
KRT82	3888	broad.mit.edu	37	12	52788775	52788775	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:52788775G>A	uc001sai.1	-	9	1641	c.1526C>T	c.(1525-1527)CCC>CTC	p.P509L		NM_033033	NP_149022	Q9NSB4	KRT82_HUMAN	keratin 82	509	Tail.					keratin filament	protein binding|structural constituent of epidermis			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(357;0.193)		CTTGTGGCTGGGGGAGCTGCC	0.622													16	30					0	0	0.004990	0	0
KRT6C	286887	broad.mit.edu	37	12	52864383	52864383	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:52864383T>G	uc001sal.3	-	6	1157	c.1109A>C	c.(1108-1110)CAT>CCT	p.H370P		NM_173086	NP_775109	P48668	K2C6C_HUMAN	keratin 6C	370	Rod.|Coil 2.				cytoskeleton organization	keratin filament	structural molecule activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.0828)		GTCGTCCCCATGTCTGCCTGC	0.552													16	36					0	0	0.003954	0	0
KRT71	112802	broad.mit.edu	37	12	52942560	52942560	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:52942560G>A	uc001sao.2	-	4	808	c.738C>T	c.(736-738)GCC>GCT	p.A246A		NM_033448	NP_258259	Q3SY84	K2C71_HUMAN	keratin 71	246	Coil 1B.|Rod.						structural molecule activity			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(357;0.194)		CCACCTTATTGGCGTAAGCAG	0.547													28	54					0	0	0.002836	0	0
KRT1	3848	broad.mit.edu	37	12	53072441	53072441	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:53072441A>T	uc001sau.1	-	2	750	c.691T>A	c.(691-693)TTT>ATT	p.F231I	KRT1_uc001sav.1_Missense_Mutation_p.F231I	NM_006121	NP_006112	P04264	K2C1_HUMAN	keratin 1	231	Rod.|Linker 1.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			ovary(1)|skin(1)	2						AATGACTCAAAGTAGGGCTCT	0.483													39	84					0	0	0.007835	0	0
KRT79	338785	broad.mit.edu	37	12	53216910	53216910	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:53216910C>T	uc001sbb.2	-	7	1290	c.1257G>A	c.(1255-1257)AAG>AAA	p.K419K	KRT79_uc001sba.2_Silent_p.K190K	NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN	keratin 6L	419	Rod.|Coil 2.					keratin filament	structural molecule activity			ovary(2)|skin(2)	4						TCAGGTCCTCCTTGGCCTGGT	0.612													13	20					0	0	0.001855	0	0
KRT78	196374	broad.mit.edu	37	12	53233556	53233556	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:53233556C>T	uc001sbc.1	-	7	1324	c.1260G>A	c.(1258-1260)GAG>GAA	p.E420E		NM_173352	NP_775487	Q8N1N4	K2C78_HUMAN	keratin 5b	420	Coil 2.|Rod.					keratin filament	protein binding|structural molecule activity			ovary(2)	2						ACCTGCACTCCTCGCCCTCCA	0.587													15	20					0	0	0.003163	0	0
KRT78	196374	broad.mit.edu	37	12	53240038	53240038	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:53240038C>T	uc001sbc.1	-	4	763	c.699G>A	c.(697-699)GAG>GAA	p.E233E		NM_173352	NP_775487	Q8N1N4	K2C78_HUMAN	keratin 5b	233	Coil 1B.|Rod.					keratin filament	protein binding|structural molecule activity			ovary(2)	2						CCAGCTTGCCCTCCAACTCCA	0.542													14	27					0	0	0.004007	0	0
RARG	5916	broad.mit.edu	37	12	53621185	53621185	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:53621185G>A	uc001sce.2	-	3	630	c.145C>T	c.(145-147)CTG>TTG	p.L49L	RARG_uc001scf.2_Silent_p.L49L|RARG_uc001scg.2_Intron|RARG_uc010soc.1_Intron	NM_000966	NP_000957	P13631	RARG_HUMAN	retinoic acid receptor, gamma isoform 1	49	Modulating.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|ovary(1)|lung(1)	4					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	GGCTGGCCCAGGCCCCGGAAG	0.612													19	48					0	0	0.002780	0	0
SP7	121340	broad.mit.edu	37	12	53722077	53722077	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:53722077G>A	uc001sct.2	-	2	1256	c.1149C>T	c.(1147-1149)CCC>CCT	p.P383P	SP7_uc001scu.2_Silent_p.P365P|SP7_uc001scv.2_Silent_p.P383P	NM_152860	NP_690599	Q8TDD2	SP7_HUMAN	osterix	383					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CACTGGGAGGGGGACCCGGGC	0.667											OREG0021867	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	15					0	0	0.004482	0	0
HOXC5	3222	broad.mit.edu	37	12	54427174	54427174	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:54427174G>A	uc001sew.2	+	1	343	c.268G>A	c.(268-270)GAA>AAA	p.E90K	HOXC5_uc001set.2_Intron|HOXC4_uc001seu.2_Intron|MIR615_hsa-mir-615|MI0003628_5'Flank	NM_018953	NP_061826	Q00444	HXC5_HUMAN	homeobox C5	90					regulation of transcription from RNA polymerase II promoter	cell junction|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						GGGCAGAGACGAAGCGGCTCC	0.701													11	12					0	0	0.008291	0	0
DCD	117159	broad.mit.edu	37	12	55039462	55039462	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:55039462C>T	uc001sgj.2	-	3	189	c.127G>A	c.(127-129)GAA>AAA	p.E43K	DCD_uc009znt.2_Missense_Mutation_p.E43K|DCD_uc009znu.2_RNA	NM_053283	NP_444513	P81605	DCD_HUMAN	dermcidin preproprotein	43					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	protein binding			ovary(1)	1		Myeloproliferative disorder(1001;0.0255)				CCTGCATTTTCCTTTTGAGCT	0.517													34	85					0	0	0.005524	0	0
OR10P1	121130	broad.mit.edu	37	12	56031539	56031539	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:56031539C>T	uc010spq.1	+	1	864	c.864C>T	c.(862-864)CCC>CCT	p.P288P		NM_206899	NP_996782	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P,	288	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|pancreas(1)	2						TGCTCAACCCCATCATCTACA	0.597													16	36					0	0	0.004990	0	0
DNAJC14	85406	broad.mit.edu	37	12	56182877	56182877	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:56182877G>A	uc001shu.1	-	14	2588	c.2532C>T	c.(2530-2532)GTC>GTT	p.V844V	SARNP_uc009zoa.2_RNA|SARNP_uc001shs.3_RNA|SARNP_uc001sht.2_Silent_p.V161V	NM_032364	NP_115740	Q6Y2X3	DJC14_HUMAN	dopamine receptor interacting protein	Error:Variant_position_missing_in_Q6Y2X3_after_alignment					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			ovary(3)|large_intestine(1)	4						AGATTGAAGAGACATTCAAAC	0.368													33	95					0	0	0.006999	0	0
MYL6B	140465	broad.mit.edu	37	12	56548957	56548957	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:56548957G>A	uc001sjs.2	+	4	448	c.321G>A	c.(319-321)AAG>AAA	p.K107K	MYL6B_uc009zoo.2_Silent_p.K107K|MYL6B_uc001sjt.2_Silent_p.K107K|MYL6B_uc001sju.1_Silent_p.K107K	NM_002475	NP_002466	P14649	MYL6B_HUMAN	smooth muscle and non-muscle myosin alkali light	107					muscle filament sliding|skeletal muscle tissue development	cytosol|muscle myosin complex|unconventional myosin complex	calcium ion binding|motor activity|protein binding|structural constituent of muscle				0			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			AGGTGCTCAAGGTCCTGGGGA	0.537													37	60					0	0	0.004878	0	0
OBFC2B	79035	broad.mit.edu	37	12	56622898	56622898	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:56622898C>T	uc001ski.2	+	7	661	c.537C>T	c.(535-537)ATC>ATT	p.I179I	OBFC2B_uc001skk.2_Silent_p.I204I|OBFC2B_uc001skj.2_Silent_p.I195I	NM_024068	NP_076973	Q9BQ15	SOSB1_HUMAN	oligonucleotide/oligosaccharide-binding fold	179	Pro-rich.				double-strand break repair via homologous recombination|G2/M transition checkpoint|response to ionizing radiation	SOSS complex	protein binding|single-stranded DNA binding			ovary(1)	1						GCACCCGAATCACTCGAAGCC	0.617								Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					18	37					0	0	0.006122	0	0
LRP1	4035	broad.mit.edu	37	12	57600439	57600439	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:57600439C>T	uc001snd.2	+	76	12240	c.11774C>T	c.(11773-11775)TCC>TTC	p.S3925F		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	3925	Extracellular (Potential).|LDL-receptor class B 31.				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)	GGCACCATCTCCTACCGCAGC	0.607													15	34					0	0	0.006122	0	0
NXPH4	11247	broad.mit.edu	37	12	57619147	57619147	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:57619147C>T	uc010srf.1	+	2	719	c.544C>T	c.(544-546)CTG>TTG	p.L182L	NXPH4_uc009zpj.2_5'UTR	NM_007224	NP_009155	O95158	NXPH4_HUMAN	neurexophilin 4 precursor	182	IV (linker domain).				neuropeptide signaling pathway	extracellular region					0						TACGCTCGCCCTGGAGGGGGT	0.741													23	54					0	0	0.002780	0	0
INHBC	3626	broad.mit.edu	37	12	57843232	57843232	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:57843232C>T	uc001snv.1	+	2	613	c.486C>T	c.(484-486)CTC>CTT	p.L162L		NM_005538	NP_005529	P55103	INHBC_HUMAN	inhibin beta C chain preproprotein	162					growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding				0						ATACCAACCTCACCTTGGCTA	0.562													42	89					0	0	0.003214	0	0
ARHGAP9	64333	broad.mit.edu	37	12	57866353	57866353	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:57866353G>A	uc001sod.2	-	21	2606	c.2413C>T	c.(2413-2415)CCA>TCA	p.P805S	ARHGAP9_uc001sny.2_RNA|ARHGAP9_uc001snz.2_Missense_Mutation_p.P531S|ARHGAP9_uc001soa.2_Missense_Mutation_p.P404S|ARHGAP9_uc001sob.2_3'UTR|ARHGAP9_uc001soc.2_Missense_Mutation_p.P715S	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9 isoform 1	734	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			lung(1)	1			GBM - Glioblastoma multiforme(3;3.37e-34)			AGCTGCCCTGGGTAGAGAGCA	0.542													15	30					0	0	0.006122	0	0
MARS	4141	broad.mit.edu	37	12	57905630	57905630	+	Silent	SNP	C	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:57905630C>A	uc001sog.2	+	12	1541	c.1518C>A	c.(1516-1518)CCC>CCA	p.P506P	MARS_uc001sof.1_RNA|MARS_uc010srp.1_Silent_p.P379P|MARS_uc010srq.1_Silent_p.P272P|MARS_uc001soh.1_5'Flank	NM_004990	NP_004981	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	506					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			ovary(3)|central_nervous_system(1)|pancreas(1)	5			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	CCCCTGTACCCTTAGAAGGTT	0.478													9	18					3.09899e-07	4.02674e-07	0.004482	1	0
DCTN2	10540	broad.mit.edu	37	12	57939822	57939822	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:57939822C>G	uc001som.1	-	2	226	c.94G>C	c.(94-96)GAG>CAG	p.E32Q	DCTN2_uc009zpu.1_Missense_Mutation_p.E32Q|DCTN2_uc009zpv.1_5'UTR|DCTN2_uc009zpw.1_5'UTR|DCTN2_uc001soo.1_RNA|DCTN2_uc001son.1_5'UTR|DCTN2_uc001sop.1_5'UTR|DCTN2_uc001soq.1_RNA|DCTN2_uc009zpx.1_Missense_Mutation_p.E32Q	NM_006400	NP_006391	Q13561	DCTN2_HUMAN	dynactin 2	32					cell proliferation|G2/M transition of mitotic cell cycle|mitosis	centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle	motor activity|protein binding			ovary(1)	1						GCATCGAACTCCGCTTGATCA	0.537													18	52					0	0	0.007413	0	0
AVIL	10677	broad.mit.edu	37	12	58200210	58200210	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:58200210G>A	uc001sqj.1	-	13	1633	c.1604C>T	c.(1603-1605)TCC>TTC	p.S535F	AVIL_uc009zqe.1_Missense_Mutation_p.S528F|AVIL_uc001sqk.1_Missense_Mutation_p.S113F|AVIL_uc001sql.3_Missense_Mutation_p.S512F	NM_006576	NP_006567	O75366	AVIL_HUMAN	advillin	535	Gelsolin-like 5.|Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			central_nervous_system(1)	1	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					GTTTAGGGAGGAGGCAAAGGC	0.527													20	29					0	0	0.007413	0	0
BEST3	144453	broad.mit.edu	37	12	70049395	70049395	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:70049395C>T	uc001svg.2	-	10	1526	c.1299G>A	c.(1297-1299)AGG>AGA	p.R433R	BEST3_uc001svd.1_Intron|BEST3_uc001sve.1_Intron|BEST3_uc001svf.2_Silent_p.R220R|BEST3_uc010stm.1_Silent_p.R327R	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	vitelliform macular dystrophy 2-like 3 isoform	433	Cytoplasmic (Potential).					chloride channel complex|plasma membrane	chloride channel activity				0	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			CCAGTAGGTCCCTGGCTGGGC	0.597													30	59					0	0	0.002836	0	0
PTPRB	5787	broad.mit.edu	37	12	70964929	70964929	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:70964929G>A	uc001swb.3	-	11	2623	c.2593C>T	c.(2593-2595)CAC>TAC	p.H865Y	PTPRB_uc010sto.1_Missense_Mutation_p.H865Y|PTPRB_uc010stp.1_Missense_Mutation_p.H775Y|PTPRB_uc001swc.3_Missense_Mutation_p.H1083Y|PTPRB_uc001swa.3_Missense_Mutation_p.H995Y|PTPRB_uc001swd.3_Missense_Mutation_p.H1082Y|PTPRB_uc009zrr.1_Missense_Mutation_p.H962Y	NM_002837	NP_002828	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	865	Fibronectin type-III 10.|Extracellular (Potential).				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TTTACAAGGTGAAAAGGAGGA	0.458													17	36					0	0	0.004990	0	0
PTPRR	5801	broad.mit.edu	37	12	71286603	71286603	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:71286603T>A	uc001swi.1	-	2	629	c.213A>T	c.(211-213)GAA>GAT	p.E71D		NM_002849	NP_002840	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	71	Extracellular (Potential).				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			skin(2)|ovary(1)	3			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TTACTTGAGCTTCGGAAGAGG	0.453													82	145					0	0	0.003610	0	0
LGR5	8549	broad.mit.edu	37	12	71977872	71977872	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:71977872C>T	uc001swl.2	+	18	2130	c.2082C>T	c.(2080-2082)ACC>ACT	p.T694T	LGR5_uc001swm.2_Silent_p.T670T|LGR5_uc001swn.1_Intron	NM_003667	NP_003658	O75473	LGR5_HUMAN	leucine-rich repeat-containing G protein-coupled	694	Helical; Name=4; (Potential).					integral to plasma membrane	protein-hormone receptor activity			lung(4)|skin(3)|ovary(1)|pancreas(1)	9						TGGCCTTGACCATGGCCGCAG	0.537													98	282					0	0	0.003610	0	0
TRHDE	29953	broad.mit.edu	37	12	72866880	72866880	+	Missense_Mutation	SNP	G	A	A	rs147826771		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:72866880G>A	uc001sxa.2	+	5	1399	c.1369G>A	c.(1369-1371)GAA>AAA	p.E457K		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	457	Extracellular (Potential).				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3						TGTGTGGTGGGAAGACGTGTG	0.393													46	159					0	0	0.003610	0	0
NAV3	89795	broad.mit.edu	37	12	78400637	78400637	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:78400637C>T	uc001syp.2	+	8	1492	c.1319C>T	c.(1318-1320)CCC>CTC	p.P440L	NAV3_uc001syo.2_Missense_Mutation_p.P440L	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	440						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						AATAGCAGTCCCAAAGTGTCA	0.428										HNSCC(70;0.22)			25	80					0	0	0.003330	0	0
ACSS3	79611	broad.mit.edu	37	12	81647105	81647105	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:81647105C>T	uc001szl.1	+	14	1830	c.1739C>T	c.(1738-1740)ACC>ATC	p.T580I	ACSS3_uc001szm.1_Missense_Mutation_p.T579I|ACSS3_uc001szn.1_Missense_Mutation_p.T262I	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	580						mitochondrion	acetate-CoA ligase activity|ATP binding			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						TCCCATGGTACCGTGGCAGAC	0.348													99	219					0	0	0.003610	0	0
PPFIA2	8499	broad.mit.edu	37	12	81734989	81734989	+	Splice_Site	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:81734989T>C	uc001szo.1	-	20	2424	c.2263_splice	c.e20-1	p.I755_splice	PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_Splice_Site|PPFIA2_uc010suh.1_Splice_Site|PPFIA2_uc010sui.1_Splice_Site|PPFIA2_uc010suj.1_Splice_Site|PPFIA2_uc009zsi.1_Splice_Site|PPFIA2_uc010suf.1_Splice_Site|PPFIA2_uc009zsh.2_Splice_Site	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	PTPRF interacting protein alpha 2											ovary(3)|lung(2)|pancreas(1)	6						AACTGCAATCTAGAAGCAAAA	0.378													24	58					0	0	0.006320	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85518099	85518099	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:85518099C>T	uc001tac.2	+	17	3920	c.3809C>T	c.(3808-3810)TCT>TTT	p.S1270F	LRRIQ1_uc001tab.1_Missense_Mutation_p.S1270F	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1270										ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)		TGGATGGACTCTGTCTCCAGC	0.453													29	64					0	0	0.005443	0	0
C12orf50	160419	broad.mit.edu	37	12	88383058	88383058	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:88383058T>A	uc001tam.1	-	8	851	c.683A>T	c.(682-684)AAA>ATA	p.K228I	C12orf50_uc001tan.2_Missense_Mutation_p.K282I	NM_152589	NP_689802	Q8NA57	CL050_HUMAN	hypothetical protein LOC160419	228										skin(2)|ovary(1)	3						ATTTGAACATTTTGATATGGT	0.313													12	32					0	0	0.000978	0	0
C12orf50	160419	broad.mit.edu	37	12	88391951	88391951	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:88391951T>G	uc001tam.1	-	4	318	c.150A>C	c.(148-150)AAA>AAC	p.K50N	C12orf50_uc001tan.2_Missense_Mutation_p.K104N	NM_152589	NP_689802	Q8NA57	CL050_HUMAN	hypothetical protein LOC160419	50										skin(2)|ovary(1)	3						CCTGAATTTCTTTCTGTAGTG	0.373													10	33					0	0	0.001855	0	0
EPYC	1833	broad.mit.edu	37	12	91366696	91366696	+	Silent	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:91366696T>C	uc001tbk.2	-	4	495	c.402A>G	c.(400-402)GAA>GAG	p.E134E		NM_004950	NP_004941	Q99645	EPYC_HUMAN	dermatan sulfate proteoglycan 3 precursor	134	LRRNT.				female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding			skin(1)	1						TAGCATCAAGTTCATGGTCAT	0.353													38	87					0	0	0.003214	0	0
TMCC3	57458	broad.mit.edu	37	12	94975716	94975716	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:94975716G>A	uc001tdj.2	-	2	795	c.677C>T	c.(676-678)TCC>TTC	p.S226F	TMCC3_uc001tdi.2_Missense_Mutation_p.S195F	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	226						integral to membrane				ovary(1)|skin(1)	2						CTCCTCTAAGGAATTTTTCAA	0.498													30	46					0	0	0.007291	0	0
GAS2L3	283431	broad.mit.edu	37	12	101017784	101017784	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:101017784A>G	uc001thu.2	+	10	1427	c.1201A>G	c.(1201-1203)AAT>GAT	p.N401D	GAS2L3_uc009zty.2_Missense_Mutation_p.N401D|GAS2L3_uc001thv.2_Missense_Mutation_p.N297D	NM_174942	NP_777602	Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	401					cell cycle arrest					skin(1)	1						TCCTTCAAACAATGCATCATC	0.423													28	60					0	0	0.005443	0	0
ANO4	121601	broad.mit.edu	37	12	101333228	101333228	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:101333228A>G	uc010svm.1	+	4	868	c.296A>G	c.(295-297)GAG>GGG	p.E99G	ANO4_uc010svl.1_RNA|ANO4_uc001thw.2_Missense_Mutation_p.E64G|ANO4_uc001thx.2_Missense_Mutation_p.E99G	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	anoctamin 4	99	Extracellular (Potential).					chloride channel complex	chloride channel activity			ovary(4)|skin(2)	6						GCCGGGGGAGAGGTAAGAGTA	0.438										HNSCC(74;0.22)			5	52					0	0	0.001168	0	0
IGF1	3479	broad.mit.edu	37	12	102811659	102811659	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:102811659C>T	uc001tjp.3	-	4	744	c.525G>A	c.(523-525)AAG>AAA	p.K175K	IGF1_uc001tjn.2_Intron|IGF1_uc001tjm.2_Intron|IGF1_uc001tjo.2_Intron	NM_001111285	NP_001104755	P05019	IGF1_HUMAN	insulin-like growth factor 1 isoform 3	175					anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|DNA replication|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of activated T cell proliferation|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of Ras protein signal transduction|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|Ras protein signal transduction|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration	platelet alpha granule lumen	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding			central_nervous_system(1)|pancreas(1)	2						TCTGCTCTTTCTTCTTTCCTC	0.468													105	255					0	0	0.003610	0	0
IGF1	3479	broad.mit.edu	37	12	102813396	102813396	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:102813396C>T	uc001tjp.3	-	3	512	c.293G>A	c.(292-294)CGG>CAG	p.R98Q	IGF1_uc001tjn.2_Missense_Mutation_p.R82Q|IGF1_uc001tjm.2_Missense_Mutation_p.R98Q|IGF1_uc001tjo.2_Missense_Mutation_p.R98Q	NM_001111285	NP_001104755	P05019	IGF1_HUMAN	insulin-like growth factor 1 isoform 3	98	A.				anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|DNA replication|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of activated T cell proliferation|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of Ras protein signal transduction|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|Ras protein signal transduction|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration	platelet alpha granule lumen	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding			central_nervous_system(1)|pancreas(1)	2						ATCACAGCTCCGGAAGCAGCA	0.597													14	32					0	0	0.004007	0	0
NT5DC3	51559	broad.mit.edu	37	12	104187199	104187199	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:104187199G>A	uc010swe.1	-	8	947	c.906C>T	c.(904-906)CCC>CCT	p.P302P		NM_001031701	NP_001026871	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	302							hydrolase activity|metal ion binding			ovary(2)|skin(1)	3						CAAAGCTACTGGGGCTATTGG	0.443													23	50					0	0	0.003330	0	0
POLR3B	55703	broad.mit.edu	37	12	106772061	106772061	+	Silent	SNP	T	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:106772061T>G	uc001tlp.2	+	8	735	c.513T>G	c.(511-513)GTT>GTG	p.V171V	POLR3B_uc001tlq.2_Silent_p.V113V	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN	DNA-directed RNA polymerase III B isoform 1	171					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						ACTTCATTGTTAAAGGAGTAG	0.398													34	70					0	0	0.002445	0	0
RFX4	5992	broad.mit.edu	37	12	107114653	107114653	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:107114653C>T	uc001tlr.2	+	13	1416	c.1350C>T	c.(1348-1350)TTC>TTT	p.F450F	RFX4_uc001tls.2_Silent_p.F459F|RFX4_uc001tlt.2_Silent_p.F459F|RFX4_uc001tlv.2_Silent_p.F356F	NM_213594	NP_998759	Q33E94	RFX4_HUMAN	regulatory factor X4 isoform c	450	Necessary for dimerization.				transcription, DNA-dependent	nucleus	DNA binding			upper_aerodigestive_tract(1)	1						CCCCCAGCTTCGGTAAGGCCA	0.567													29	51					0	0	0.002445	0	0
BTBD11	121551	broad.mit.edu	37	12	108012029	108012029	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:108012029G>A	uc001tmk.1	+	10	2847	c.2326G>A	c.(2326-2328)GAG>AAG	p.E776K	BTBD11_uc009zut.1_Intron|BTBD11_uc001tmj.2_Missense_Mutation_p.E776K|BTBD11_uc001tml.1_Missense_Mutation_p.E313K	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11 isoform a	776						integral to membrane	DNA binding			skin(2)|ovary(1)	3						TGACCTGGCGGAGACAGCCCC	0.617													9	31					0	0	0.004482	0	0
DAO	1610	broad.mit.edu	37	12	109288048	109288048	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:109288048G>A	uc001tnr.3	+	7	670	c.517G>A	c.(517-519)GAA>AAA	p.E173K	DAO_uc001tnq.3_Missense_Mutation_p.E107K|DAO_uc009zvb.2_RNA|DAO_uc001tns.3_RNA	NM_001917	NP_001908	P14920	OXDA_HUMAN	D-amino-acid oxidase	173					glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity			ovary(1)|skin(1)	2						GGTGGCAAGAGAAGGCGCAGA	0.582													7	23					0	0	0.004482	0	0
UBE3B	89910	broad.mit.edu	37	12	109947476	109947476	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:109947476C>T	uc001top.2	+	16	2301	c.1698C>T	c.(1696-1698)TTC>TTT	p.F566F	UBE3B_uc001toq.2_Silent_p.F566F|UBE3B_uc001tos.2_5'UTR|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Silent_p.F566F	NM_130466	NP_569733	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	566					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			ovary(2)|lung(2)	4						TCTCCTCTTTCCTGAATTCTT	0.408													30	50					0	0	0.007291	0	0
MYL2	4633	broad.mit.edu	37	12	111350900	111350900	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:111350900C>T	uc001try.3	-	6	473	c.402G>A	c.(400-402)GAG>GAA	p.E134E	MYL2_uc001trx.3_Silent_p.E115E	NM_000432	NP_000423	P10916	MLRV_HUMAN	slow cardiac myosin regulatory light chain 2	134	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						ACCCCATTACCTCCTCCTTGG	0.587													25	43					0	0	0.002836	0	0
NAA25	80018	broad.mit.edu	37	12	112481521	112481522	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:112481521_112481522CC>TT	uc001ttm.2	-	18	2177_2178	c.2157_2158GG>AA	c.(2155-2160)GGGGTA>GGAATA	p.V720I	NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_Missense_Mutation_p.V692I|NAA25_uc009zwa.1_Missense_Mutation_p.V720I	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	mitochondrial distribution and morphology 20	720						cytoplasm	protein binding			ovary(1)|breast(1)|pancreas(1)	3						CGGGAGGATACCCCATTCTCGG	0.48													32	77					0	0	0.004672	0	0
PTPN11	5781	broad.mit.edu	37	12	112940036	112940036	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:112940036G>T	uc001ttx.2	+	14	2068	c.1688G>T	c.(1687-1689)TGT>TTT	p.C563F		NM_002834	NP_002825	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type	567					axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			haematopoietic_and_lymphoid_tissue(375)|lung(6)|autonomic_ganglia(2)|soft_tissue(2)|central_nervous_system(2)|large_intestine(1)|skin(1)|ovary(1)|NS(1)|kidney(1)	392						CTCCCGCCTTGTACTCCAACG	0.398			Mis		JMML|AML|MDS		Noonan Syndrome		Noonan_syndrome				38	81					3.54909e-21	4.65267e-21	0.002852	1	0
DTX1	1840	broad.mit.edu	37	12	113496250	113496250	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:113496250G>A	uc001tuk.1	+	1	589	c.253G>A	c.(253-255)GAC>AAC	p.D85N		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	deltex homolog 1	85	WWE 1.				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			lung(2)|ovary(1)|central_nervous_system(1)	4						GTTTCGCCAGGACACAGGTGA	0.617													32	53					0	0	0.003271	0	0
DTX1	1840	broad.mit.edu	37	12	113534574	113534574	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:113534574A>C	uc001tuk.1	+	9	2029	c.1693A>C	c.(1693-1695)ACG>CCG	p.T565P		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	deltex homolog 1	565					negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			lung(2)|ovary(1)|central_nervous_system(1)	4						CACTATCGGCACGTCCAACAC	0.642													8	21					0	0	0.003080	0	0
IQCD	115811	broad.mit.edu	37	12	113645520	113645520	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:113645520G>A	uc001tuv.1	-	2	874	c.452C>T	c.(451-453)TCC>TTC	p.S151F	IQCD_uc001tuu.2_Missense_Mutation_p.S151F	NM_138451	NP_612460	Q96DY2	IQCD_HUMAN	IQ motif containing D	151										ovary(1)	1						GTTCTTGGTGGAGTCTTTGAT	0.527													42	91					0	0	0.003214	0	0
RBM19	9904	broad.mit.edu	37	12	114395759	114395759	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:114395759G>A	uc009zwi.2	-	6	812	c.668C>T	c.(667-669)TCC>TTC	p.S223F	RBM19_uc001tvn.3_Missense_Mutation_p.S223F|RBM19_uc001tvm.2_Missense_Mutation_p.S223F	NM_001146699	NP_001140171	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	223					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			skin(3)|ovary(1)|liver(1)|central_nervous_system(1)	6	Medulloblastoma(191;0.163)|all_neural(191;0.178)					TTCCTCCGAGGAAGAGGACGA	0.557													33	58					0	0	0.002836	0	0
FBXW8	26259	broad.mit.edu	37	12	117465849	117465849	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:117465849C>T	uc001twg.1	+	11	1751	c.1669C>T	c.(1669-1671)CGC>TGC	p.R557C	FBXW8_uc001twf.1_Missense_Mutation_p.R491C|FBXW8_uc009zwp.1_RNA	NM_153348	NP_699179	Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8 isoform	557							protein binding			ovary(2)|pancreas(1)	3	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		GGGGCTGATCCGCGCCTATGA	0.622													8	22					0	0	0.004482	0	0
NOS1	4842	broad.mit.edu	37	12	117685251	117685251	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:117685251C>T	uc001twm.1	-	18	3411	c.2725G>A	c.(2725-2727)GAA>AAA	p.E909K		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	909	FMN (By similarity).|Flavodoxin-like.				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)	CCCAGTTCTTCCAGGAGGGTG	0.552													23	46					0	0	0.002780	0	0
KSR2	283455	broad.mit.edu	37	12	118199001	118199001	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:118199001G>A	uc001two.2	-	4	769	c.714C>T	c.(712-714)ATC>ATT	p.I238I		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	267	Pro-rich.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGGTGGTGACGATGTTGGGGG	0.721													65	127					0	0	0.003610	0	0
KSR2	283455	broad.mit.edu	37	12	118199236	118199236	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:118199236G>A	uc001two.2	-	4	534	c.479C>T	c.(478-480)CCG>CTG	p.P160L		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	189	Pro-rich.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	p.C160C(1)		lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCGGATCCACGGGGTGGGCTC	0.637													19	33					0	0	0.008871	0	0
CCDC60	160777	broad.mit.edu	37	12	119926649	119926649	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:119926649G>C	uc001txe.2	+	5	1000	c.535G>C	c.(535-537)GTG>CTG	p.V179L	uc001txf.2_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	179										ovary(2)|upper_aerodigestive_tract(1)	3	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CATGAAGCCTGTGATCACCTG	0.547													19	36					0	0	0.001523	0	0
CCDC60	160777	broad.mit.edu	37	12	119943007	119943007	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:119943007C>T	uc001txe.2	+	7	1247	c.782C>T	c.(781-783)TCG>TTG	p.S261L	uc001txf.2_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	261										ovary(2)|upper_aerodigestive_tract(1)	3	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		AACCCTGGCTCGGATGAGCCC	0.567													49	102					0	0	0.003610	0	0
CIT	11113	broad.mit.edu	37	12	120204947	120204947	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:120204947G>A	uc001txi.1	-	18	2175	c.2122C>T	c.(2122-2124)CAG>TAG	p.Q708*	CIT_uc001txh.1_Nonsense_Mutation_p.Q242*|CIT_uc001txj.1_Nonsense_Mutation_p.Q750*	NM_007174	NP_009105	O14578	CTRO_HUMAN	citron	708	Potential.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TCTAGGTGCTGGGCTGAGACT	0.483													80	151					0	0	0.003610	0	0
UNC119B	84747	broad.mit.edu	37	12	121157725	121157725	+	Missense_Mutation	SNP	C	T	T	rs138738738		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:121157725C>T	uc001tyz.2	+	5	1093	c.646C>T	c.(646-648)CGT>TGT	p.R216C		NM_001080533	NP_001074002	A6NIH7	U119B_HUMAN	unc-119 homolog B	216										haematopoietic_and_lymphoid_tissue(1)	1	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ACTTGCAGTTCGTCTAATGAT	0.433													120	194					0	0	0.003610	0	0
OASL	8638	broad.mit.edu	37	12	121469317	121469317	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:121469317C>T	uc001tzj.1	-	3	591	c.585G>A	c.(583-585)CAG>CAA	p.Q195Q	OASL_uc001tzk.1_Silent_p.Q195Q	NM_003733	NP_003724	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like isoform a	195					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			skin(1)	1	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CGAAATTTCTCTGCAGCTCGC	0.582													123	235					0	0	0.003610	0	0
GPR109A	338442	broad.mit.edu	37	12	123187473	123187473	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:123187473C>T	uc001ucx.1	-	1	432	c.358G>A	c.(358-360)GTG>ATG	p.V120M	GPR81_uc001ucw.1_Intron	NM_177551	NP_808219	Q8TDS4	HCAR2_HUMAN	G protein-coupled receptor 109A	120	Helical; Name=3; (Potential).				negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.12e-05)|Epithelial(86;3.19e-05)|BRCA - Breast invasive adenocarcinoma(302;0.196)	Mepenzolate(DB04843)|Niacin(DB00627)	ACCGCCACCACCGTGAGGAAG	0.572													27	49					0	0	0.004656	0	0
OGFOD2	79676	broad.mit.edu	37	12	123463551	123463551	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:123463551C>T	uc001uea.1	+	6	804	c.783C>T	c.(781-783)CTC>CTT	p.L261L	OGFOD2_uc001uds.1_Silent_p.L97L|OGFOD2_uc001udt.1_Silent_p.L97L|OGFOD2_uc001udu.1_Silent_p.L97L|OGFOD2_uc001udv.1_Silent_p.L97L|OGFOD2_uc009zxs.1_Silent_p.L97L|OGFOD2_uc001udw.1_Silent_p.L97L|OGFOD2_uc001udx.1_Silent_p.L97L|OGFOD2_uc001udy.1_Silent_p.L97L|OGFOD2_uc001udz.1_Silent_p.L201L|OGFOD2_uc001ueb.1_Silent_p.L97L|ARL6IP4_uc001uec.2_5'Flank|ARL6IP4_uc001ued.2_5'Flank|ARL6IP4_uc001uee.2_5'Flank|ARL6IP4_uc001uef.2_5'Flank|ARL6IP4_uc001ueg.2_5'Flank|ARL6IP4_uc009zxt.2_5'Flank|ARL6IP4_uc001ueh.2_5'Flank|ARL6IP4_uc001uei.2_5'Flank	NM_024623	NP_078899	Q6N063	OGFD2_HUMAN	2-oxoglutarate and iron-dependent oxygenase	261	Fe2OG dioxygenase.						iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			pancreas(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)	Vitamin C(DB00126)	TTGGGGGCCTCTTCCAGGTGA	0.637													20	34					0	0	0.001523	0	0
PITPNM2	57605	broad.mit.edu	37	12	123497270	123497270	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:123497270G>A	uc001uej.1	-	4	444	c.305C>T	c.(304-306)CCT>CTT	p.P102L	PITPNM2_uc001uek.1_Missense_Mutation_p.P102L|PITPNM2_uc009zxu.1_Missense_Mutation_p.P102L|hsa-mir-4304|MI0015832_5'Flank	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein,	102					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CTCCACGAAAGGACAGGTGAA	0.517													51	99					0	0	0.003610	0	0
DNAH10	196385	broad.mit.edu	37	12	124257439	124257439	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:124257439C>T	uc001uft.3	+	4	297	c.272C>T	c.(271-273)CCC>CTC	p.P91L		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	91	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ACCCCTCTTCCCGAGGAGTTC	0.458													43	97					0	0	0.003610	0	0
DNAH10	196385	broad.mit.edu	37	12	124305290	124305290	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:124305290C>T	uc001uft.3	+	23	3835	c.3810C>T	c.(3808-3810)CTC>CTT	p.L1270L		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1270	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTTACGAGCTCTATGAAGGAC	0.473													39	65					0	0	0.006230	0	0
DNAH10	196385	broad.mit.edu	37	12	124330207	124330207	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:124330207G>A	uc001uft.3	+	30	5092	c.5067G>A	c.(5065-5067)TGG>TGA	p.W1689*		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1689	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGGTGTGGTGGACCTGGGAGG	0.557													11	17					0	0	0.001368	0	0
DNAH10	196385	broad.mit.edu	37	12	124401023	124401023	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:124401023C>T	uc001uft.3	+	62	10413	c.10388C>T	c.(10387-10389)CCT>CTT	p.P3463L		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3463	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTTAATGACCCTGACTTCCTC	0.488													37	85					0	0	0.002522	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138696	126138696	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:126138696G>A	uc001uhe.1	+	9	2685	c.2677G>A	c.(2677-2679)GGG>AGG	p.G893R	TMEM132B_uc001uhf.1_Missense_Mutation_p.G405R	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	transmembrane protein 132B	893	Extracellular (Potential).					integral to membrane				skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GACCTCAAGGGGGCTAACGGA	0.512													33	40					0	0	0.002096	0	0
TMEM132B	114795	broad.mit.edu	37	12	126139205	126139205	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:126139205G>A	uc001uhe.1	+	9	3194	c.3186G>A	c.(3184-3186)GGG>GGA	p.G1062G	TMEM132B_uc001uhf.1_Silent_p.G574G	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	transmembrane protein 132B	1062	Cytoplasmic (Potential).					integral to membrane				skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TGGGGCTGGGGGATTCACAGG	0.458													31	53					0	0	0.003755	0	0
RIMBP2	23504	broad.mit.edu	37	12	130927050	130927050	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:130927050C>T	uc001uil.2	-	8	960	c.796G>A	c.(796-798)GAC>AAC	p.D266N	RIMBP2_uc001uim.2_Missense_Mutation_p.D174N|RIMBP2_uc001uin.1_5'UTR	NM_015347	NP_056162	O15034	RIMB2_HUMAN	RIM-binding protein 2	266						cell junction|synapse				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GAGTGGAGGTCCAGGATGTGC	0.592													32	58					0	0	0.003271	0	0
POLE	5426	broad.mit.edu	37	12	133202802	133202802	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:133202802G>A	uc001uks.1	-	46	6476	c.6432C>T	c.(6430-6432)TTC>TTT	p.F2144F	POLE_uc001ukq.1_Silent_p.F354F|POLE_uc001ukr.1_Silent_p.F948F|POLE_uc010tbq.1_RNA	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	2144					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		AGGGGTCTCGGAACTGGGCCT	0.582								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					10	20					0	0	0.008291	0	0
GOLGA3	2802	broad.mit.edu	37	12	133363077	133363077	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:133363077C>T	uc001ukz.1	-	15	3530	c.2971G>A	c.(2971-2973)GAG>AAG	p.E991K	GOLGA3_uc001ula.1_Missense_Mutation_p.E991K|GOLGA3_uc001ulb.2_Missense_Mutation_p.E991K	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Golgi autoantigen, golgin subfamily a, 3	991	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)		GTCTTCATCTCCTTCTGGGCG	0.632													6	16					0	0	0.003080	0	0
DKFZp686A1627	266695	broad.mit.edu	37	13	19636755	19636755	+	RNA	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:19636755T>A	uc001umb.1	-	6		c.827A>T				NR_002801				Homo sapiens mRNA; cDNA DKFZp686A1627 (from clone DKFZp686A1627).												0						ACATGGGTTTTCTCATAGTTT	0.552													4	11					0	0	0.000602	0	0
DKFZp686A1627	266695	broad.mit.edu	37	13	19636811	19636811	+	RNA	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:19636811C>T	uc001umb.1	-	6		c.771G>A				NR_002801				Homo sapiens mRNA; cDNA DKFZp686A1627 (from clone DKFZp686A1627).												0						CTCTTCCACTCCCAACACAGC	0.532													4	9					0	0	0.000248	0	0
XPO4	64328	broad.mit.edu	37	13	21382648	21382648	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:21382648C>T	uc001unq.3	-	12	1602	c.1566G>A	c.(1564-1566)CCG>CCA	p.P522P		NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN	exportin 4	522					protein transport	cytoplasm|nucleus	protein binding			large_intestine(1)|ovary(1)|kidney(1)	3		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		TGCTTGAACCCGGTGAAGCAA	0.363													19	35					0	0	0.006122	0	0
SACS	26278	broad.mit.edu	37	13	23910790	23910790	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:23910790G>A	uc001uon.2	-	10	7814	c.7225C>T	c.(7225-7227)CAA>TAA	p.Q2409*	SACS_uc001uoo.2_Nonsense_Mutation_p.Q2262*|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	2409					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CCTCTTTCTTGATCAATAGAT	0.353													13	31					0	0	0.001368	0	0
PABPC3	5042	broad.mit.edu	37	13	25671146	25671146	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:25671146G>A	uc001upy.2	+	1	871	c.810G>A	c.(808-810)GTG>GTA	p.V270V		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	270					mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			ovary(3)|skin(1)	4		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		AGAAAAAAGTGGAACGGCAGA	0.403													12	54					0	0	0.001368	0	0
ATP8A2	51761	broad.mit.edu	37	13	26138107	26138107	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:26138107C>T	uc001uqk.2	+	16	1553	c.1411C>T	c.(1411-1413)CCC>TCC	p.P471S	ATP8A2_uc010tdi.1_Missense_Mutation_p.P431S|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc001uql.1_Missense_Mutation_p.P431S	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter-like,	431	Cytoplasmic (Potential).				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|large_intestine(1)|skin(1)	4		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GATGCCTCCTCCCTGTAGTGA	0.418													15	62					0	0	0.003163	0	0
WASF3	10810	broad.mit.edu	37	13	27255399	27255399	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:27255399C>T	uc001uqv.2	+	8	1150	c.925C>T	c.(925-927)CCC>TCC	p.P309S	WASF3_uc001uqw.2_Missense_Mutation_p.P306S	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	309	Poly-Pro.				actin filament polymerization	cytoplasm|cytoskeleton	actin binding			pancreas(1)	1	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CCCCCCGCCTCCCCCTCAGGC	0.682													18	38					0	0	0.001523	0	0
RPL21	6144	broad.mit.edu	37	13	27828363	27828363	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:27828363T>C	uc001ura.2	+	3	117	c.74T>C	c.(73-75)GTT>GCT	p.V25A	RPL21_uc001uqz.1_Intron|SNORD102_uc001urb.2_5'Flank|SNORA27_uc001urc.1_5'Flank	NM_000982	NP_000973	P46778	RL21_HUMAN	ribosomal protein L21	25					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome				0		Lung SC(185;0.0156)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0287)|OV - Ovarian serous cystadenocarcinoma(117;0.118)|Epithelial(112;0.139)|GBM - Glioblastoma multiforme(144;0.21)		GTAGGAGTTGTTCCTTTGGCC	0.284													53	87					0	0	0.003610	0	0
CDX2	1045	broad.mit.edu	37	13	28537473	28537473	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:28537473C>T	uc001urv.2	-	3	895	c.721G>A	c.(721-723)GAG>AAG	p.E241K		NM_001265	NP_001256	Q99626	CDX2_HUMAN	caudal type homeobox 2	241	Homeobox.				organ morphogenesis|transcription from RNA polymerase II promoter		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)	1	all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)		ATTTTCCTCTCCTTTGCTCTG	0.458			T	ETV6	AML								3	9					0	0	0.004672	0	0
FLT3	2322	broad.mit.edu	37	13	28626773	28626773	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:28626773T>A	uc001urw.2	-	5	605	c.523A>T	c.(523-525)AAA>TAA	p.K175*	FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Nonsense_Mutation_p.K175*	NM_004119	NP_004110	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3 precursor	175	Extracellular (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1)	8549	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	TTTTCCATTTTTCTAAAGTAA	0.413			Mis|O		AML|ALL								24	67					0	0	0.005443	0	0
FLT1	2321	broad.mit.edu	37	13	29002051	29002051	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:29002051C>T	uc001usb.3	-	9	1399	c.1114G>A	c.(1114-1116)GAT>AAT	p.D372N	FLT1_uc010aar.1_Missense_Mutation_p.D372N|FLT1_uc001usc.3_Missense_Mutation_p.D372N|FLT1_uc010tdp.1_Missense_Mutation_p.D372N	NM_002019	NP_002010	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1 isoform 1	372	Ig-like C2-type 4.|Extracellular (Potential).				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	GGTAACCCATCTTTTAACCTG	0.398													12	38					0	0	0.001855	0	0
MTUS2	23281	broad.mit.edu	37	13	29599898	29599898	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:29599898G>A	uc001usl.3	+	1	1151	c.1093G>A	c.(1093-1095)GAA>AAA	p.E365K		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	hypothetical protein LOC23281 isoform a	355						cytoplasm|microtubule	microtubule binding|protein homodimerization activity				0						AGCACACCCGGAAGCCACCGA	0.577													4	24					0	0	0.000248	0	0
RXFP2	122042	broad.mit.edu	37	13	32349493	32349493	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:32349493G>A	uc001utt.2	+	7	679	c.608G>A	c.(607-609)GGA>GAA	p.G203E	RXFP2_uc010aba.2_Missense_Mutation_p.G186E	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	203	LRR 3.|Extracellular (Potential).					integral to membrane|plasma membrane					0		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		CTCAGACCTGGAATATTCAAA	0.358													15	64					0	0	0.008871	0	0
FRY	10129	broad.mit.edu	37	13	32836501	32836501	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:32836501C>T	uc001utx.2	+	53	8164	c.7668C>T	c.(7666-7668)ACC>ACT	p.T2556T	FRY_uc010tdw.1_RNA|FRY_uc001uty.2_Silent_p.T111T|FRY_uc001utz.2_Silent_p.T81T|FRY_uc010tdx.1_5'Flank	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	2556					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AGCTGCTCACCACAGCCTGTG	0.438													15	25					0	0	0.003163	0	0
BRCA2	675	broad.mit.edu	37	13	32893344	32893344	+	Silent	SNP	A	G	G	rs28897700		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:32893344A>G	uc001uub.1	+	3	425	c.198A>G	c.(196-198)CAA>CAG	p.Q66Q	BRCA2_uc001uua.1_5'UTR	NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	66					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAACTCCACAAAGGAAACCAT	0.373			D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)			18	81					0	0	0.008871	0	0
KL	9365	broad.mit.edu	37	13	33635816	33635816	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:33635816C>T	uc001uus.2	+	4	2608	c.2600C>T	c.(2599-2601)CCC>CTC	p.P867L	KL_uc001uur.1_3'UTR	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	klotho precursor	867	Glycosyl hydrolase-1 2.|Extracellular (Potential).				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			large_intestine(1)|ovary(1)|skin(1)	3	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GGAGACCTCCCCATGTACATA	0.517													23	52					0	0	0.001882	0	0
MAB21L1	4081	broad.mit.edu	37	13	36049657	36049657	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:36049657C>T	uc001uvc.2	-	1	1176	c.619G>A	c.(619-621)GGT>AGT	p.G207S	NBEA_uc001uvb.2_Intron|NBEA_uc010abi.2_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.1_5'Flank|NBEA_uc010teg.1_5'Flank	NM_005584	NP_005575	Q13394	MB211_HUMAN	mab-21-like protein 1	207					anatomical structure morphogenesis	nucleus				ovary(2)	2		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		AGATTGAAACCTTCCGCCTTG	0.642													23	41					0	0	0.003954	0	0
DCLK1	9201	broad.mit.edu	37	13	36382424	36382424	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:36382424C>T	uc001uvf.2	-	14	2033	c.1800G>A	c.(1798-1800)CAG>CAA	p.Q600Q	DCLK1_uc001uve.3_Silent_p.Q293Q|DCLK1_uc010teh.1_Silent_p.Q293Q|DCLK1_uc010abk.2_Silent_p.Q120Q	NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	600	Protein kinase.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			stomach(6)|ovary(2)|skin(1)	9		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CCATCAAAATCTGATCAAAAA	0.433													38	113					0	0	0.002522	0	0
SMAD9	4093	broad.mit.edu	37	13	37453792	37453792	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:37453792G>A	uc001uvw.2	-	2	378	c.35C>T	c.(34-36)TCC>TTC	p.S12F	SMAD9_uc001uvx.2_Missense_Mutation_p.S12F|SMAD9_uc010tep.1_5'UTR	NM_001127217	NP_001120689	O15198	SMAD9_HUMAN	SMAD family member 9 isoform a	12					BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity				0		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		GCTGGTGAAGGAGAAGAGGGA	0.597													13	33					0	0	0.003163	0	0
FREM2	341640	broad.mit.edu	37	13	39453102	39453102	+	Silent	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:39453102A>G	uc001uwv.2	+	23	9303	c.8994A>G	c.(8992-8994)ACA>ACG	p.T2998T		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	2998	Extracellular (Potential).				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TCGACTCAACACCACTCTTTC	0.289													10	49					0	0	0.008291	0	0
C13orf23	80209	broad.mit.edu	37	13	39602369	39602369	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:39602369C>A	uc001uwy.2	-	5	1237	c.364G>T	c.(364-366)GAA>TAA	p.E122*	C13orf23_uc001uwz.2_Nonsense_Mutation_p.E100*	NM_025138	NP_079414	Q86XN7	CM023_HUMAN	hypothetical protein LOC80209 isoform 1	122										ovary(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)	5		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;3.7e-08)|Epithelial(112;4.28e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00114)|BRCA - Breast invasive adenocarcinoma(63;0.00366)|GBM - Glioblastoma multiforme(144;0.0146)		ACTACCTGTTCAAGTATTCTC	0.353													7	15					8.12818e-05	0.00010519	0.001984	1	0
LHFP	10186	broad.mit.edu	37	13	39952608	39952608	+	Silent	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:39952608T>C	uc001uxf.2	-	3	952	c.441A>G	c.(439-441)GAA>GAG	p.E147E		NM_005780	NP_005771	Q9Y693	LHFP_HUMAN	lipoma HMGIC fusion partner precursor	147						integral to membrane	DNA binding		HMGA2/LHFP(2)	soft_tissue(2)|lung(1)|breast(1)	4		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)		TCTGCCGGACTTCCTCACTGT	0.498			T	HMGA2	lipoma								25	57					0	0	0.002096	0	0
MTRF1	9617	broad.mit.edu	37	13	41797443	41797443	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:41797443G>A	uc001uxx.2	-	11	1643	c.1173C>T	c.(1171-1173)ACC>ACT	p.T391T	MTRF1_uc001uxy.2_Silent_p.T391T|MTRF1_uc001uxz.2_Silent_p.T227T|MTRF1_uc010tff.1_Silent_p.T404T|uc001uxv.1_Intron	NM_004294	NP_004285	O75570	RF1M_HUMAN	mitochondrial translational release factor 1	391					regulation of translational termination	mitochondrion	translation release factor activity, codon specific				0		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)		CTCTATCCTGGGTGAAATTAT	0.363													37	135					0	0	0.003214	0	0
LOC220429	220429	broad.mit.edu	37	13	50465007	50465007	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:50465007A>G	uc001vdk.2	+	1	463	c.281A>G	c.(280-282)GAA>GGA	p.E94G		NR_003268				Homo sapiens CTAGE family, member 5 pseudogene, mRNA (cDNA clone IMAGE:5270026).												0						AGACTACTTGAAAAATTTAGC	0.408													24	42					0	0	0.002299	0	0
DLEU7	220107	broad.mit.edu	37	13	51417397	51417397	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:51417397G>A	uc001vez.2	-	1	489	c.386C>T	c.(385-387)TCG>TTG	p.S129L	DLEU7_uc001vex.2_Missense_Mutation_p.S129L|uc001vey.2_Intron	NM_198989	NP_945340	Q6UYE1	LEU7_HUMAN	deleted in lymphocytic leukemia, 7	129											0		Acute lymphoblastic leukemia(7;1.03e-07)|Lung NSC(96;0.000818)|Breast(56;0.00122)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.25e-08)		GACCAGCTCCGAAGTCGAGTC	0.716													6	8					0	0	0.001984	0	0
DIAPH3	81624	broad.mit.edu	37	13	60566234	60566234	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:60566234G>A	uc001vht.2	-	11	1431	c.1212C>T	c.(1210-1212)TCC>TCT	p.S404S	DIAPH3_uc001vhu.2_Silent_p.S141S|DIAPH3_uc001vhv.2_5'Flank|DIAPH3_uc001vhw.1_Silent_p.S393S|DIAPH3_uc010aed.1_Silent_p.S358S|DIAPH3_uc010aee.1_Silent_p.S334S	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	diaphanous homolog 3 isoform a	404	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)	2		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		CAAGGCGATGGGATAACTCAA	0.313													23	58					0	0	0.002780	0	0
Unknown	0	broad.mit.edu	37	13	64321127	64321127	+	RNA	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:64321127G>A	uc010thk.1	+	1		c.168G>A								Homo sapiens hypothetical LOC647264, mRNA (cDNA clone MGC:189721 IMAGE:9057045), complete cds.																		tgtggctatggaactggctac	0													6	6					0	0	0.001168	0	0
PCDH9	5101	broad.mit.edu	37	13	67800351	67800351	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:67800351G>A	uc001vik.2	-	2	2914	c.2222C>T	c.(2221-2223)CCA>CTA	p.P741L	PCDH9_uc001vil.2_Missense_Mutation_p.P741L|PCDH9_uc010thl.1_Missense_Mutation_p.P741L|PCDH9_uc001vin.3_Missense_Mutation_p.P741L	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	protocadherin 9 isoform 1 precursor	741	Extracellular (Potential).|Cadherin 7.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)|skin(1)	6		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		AGTAGGTGCTGGTTTTTCTTC	0.418													35	56					0	0	0.004289	0	0
KLF12	11278	broad.mit.edu	37	13	74420039	74420039	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:74420039C>T	uc001vjf.2	-	4	817	c.595G>A	c.(595-597)GCT>ACT	p.A199T	KLF12_uc010aeq.2_Missense_Mutation_p.A199T|KLF12_uc001vjg.3_Missense_Mutation_p.A199T	NM_007249	NP_009180	Q9Y4X4	KLF12_HUMAN	Kruppel-like factor 12	199					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)	1		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		GACCTTACAGCTGTGTAGACA	0.493													14	49					0	0	0.004007	0	0
SCEL	8796	broad.mit.edu	37	13	78183252	78183252	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:78183252G>A	uc001vki.2	+	21	1447	c.1277G>A	c.(1276-1278)GGG>GAG	p.G426E	SCEL_uc001vkj.2_Missense_Mutation_p.G406E|SCEL_uc010thx.1_Missense_Mutation_p.G384E	NM_144777	NP_659001	O95171	SCEL_HUMAN	sciellin isoform 1	426	9.|16 X approximate tandem repeats.				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			ovary(4)|breast(1)	5		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		AGTACTGAAGGGTAAGATTTA	0.313													9	24					0	0	0.001368	0	0
GPC6	10082	broad.mit.edu	37	13	94938645	94938645	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:94938645A>G	uc001vlt.2	+	5	1552	c.920A>G	c.(919-921)AAC>AGC	p.N307S	GPC6_uc010tig.1_Missense_Mutation_p.N307S	NM_005708	NP_005699	Q9Y625	GPC6_HUMAN	glypican 6 precursor	307						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding				0	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				GGGCCATTCAACATTGAGTCG	0.448													12	41					0	0	0.001368	0	0
HS6ST3	266722	broad.mit.edu	37	13	97484744	97484744	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:97484744G>A	uc001vmw.2	+	2	732	c.708G>A	c.(706-708)AGG>AGA	p.R236R		NM_153456	NP_703157	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	236	Lumenal (Potential).					integral to membrane	sulfotransferase activity			ovary(1)|skin(1)	2	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					TTTCTTCTAGGAATTTCTATT	0.403													7	26					0	0	0.003080	0	0
IPO5	3843	broad.mit.edu	37	13	98673250	98673250	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:98673250C>T	uc001vne.2	+	28	3304	c.3124C>T	c.(3124-3126)CAT>TAT	p.H1042Y		NM_002271	NP_002262	O00410	IPO5_HUMAN	importin 5	1024					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			ovary(1)|lung(1)|skin(1)	3						TGTCAGTAATCATCCAATTGT	0.333													39	55					0	0	0.008740	0	0
STK24	8428	broad.mit.edu	37	13	99112639	99112639	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:99112639G>A	uc001vnm.1	-	9	1380	c.1145C>T	c.(1144-1146)CCT>CTT	p.P382L	STK24_uc001vnn.1_Missense_Mutation_p.P370L|STK24_uc010tim.1_Missense_Mutation_p.P351L	NM_003576	NP_003567	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24 isoform a	382					cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(1)|lung(1)	2	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TGCAAACAGAGGAGAAATAAT	0.488													14	32					0	0	0.003163	0	0
NALCN	259232	broad.mit.edu	37	13	101997716	101997716	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:101997716C>T	uc001vox.1	-	7	889	c.700G>A	c.(700-702)GAA>AAA	p.E234K	NALCN_uc001voy.2_5'UTR|NALCN_uc001voz.2_Missense_Mutation_p.E234K|NALCN_uc001vpa.2_Missense_Mutation_p.E234K	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	234	Extracellular (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TAGCCTTCTTCTAGCTCTGGT	0.438													22	80					0	0	0.005443	0	0
SLC10A2	6555	broad.mit.edu	37	13	103705039	103705039	+	Silent	SNP	G	A	A	rs114146899	byFrequency	TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:103705039G>A	uc001vpy.3	-	3	1113	c.516C>T	c.(514-516)CTC>CTT	p.L172L		NM_000452	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid	172	Helical; (Potential).				bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			ovary(3)|skin(1)	4	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CAGGAACAACGAGAGAAACCA	0.393													12	34					0	0	0.001368	0	0
MYO16	23026	broad.mit.edu	37	13	109772717	109772717	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:109772717G>A	uc001vqt.1	+	29	3499	c.3373_splice	c.e29-1	p.M1125_splice	MYO16_uc010agk.1_Splice_Site_p.M1147_splice|MYO16_uc010tjh.1_Splice_Site_p.M637_splice	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8						cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TTGCATTTTAGATGGGAGTCC	0.358													14	36					0	0	0.002450	0	0
COL4A2	1284	broad.mit.edu	37	13	111138126	111138126	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:111138126C>T	uc001vqx.2	+	34	3439	c.3150C>T	c.(3148-3150)TTC>TTT	p.F1050F		NM_001846	NP_001837	P08572	CO4A2_HUMAN	alpha 2 type IV collagen preproprotein	1050	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			skin(3)|central_nervous_system(2)|ovary(1)	6	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TGCCAGGATTCCCTGGGGTGG	0.617													8	30					0	0	0.006214	0	0
LAMP1	3916	broad.mit.edu	37	13	113975755	113975755	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:113975755C>T	uc001vtm.1	+	7	1194	c.913C>T	c.(913-915)CAG>TAG	p.Q305*	LAMP1_uc010tka.1_Nonsense_Mutation_p.Q252*	NM_005561	NP_005552	P11279	LAMP1_HUMAN	lysosomal-associated membrane protein 1	305	Lumenal (Potential).|Second lumenal domain.					endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction				central_nervous_system(2)	2	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			ACAAGGAATCCAGTTGAATAC	0.373													20	60					0	0	0.002299	0	0
TMCO3	55002	broad.mit.edu	37	13	114150193	114150193	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:114150193C>T	uc001vtu.3	+	2	658	c.297C>T	c.(295-297)TTC>TTT	p.F99F	TMCO3_uc001vtt.3_Silent_p.F99F	NM_017905	NP_060375	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	99						integral to membrane	solute:hydrogen antiporter activity				0	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			TTGAAATTTTCCAGAAAGAGC	0.458													14	23					0	0	0.001855	0	0
TMCO3	55002	broad.mit.edu	37	13	114152835	114152835	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:114152835C>T	uc001vtu.3	+	3	984	c.623C>T	c.(622-624)TCA>TTA	p.S208L	TMCO3_uc001vtt.3_Missense_Mutation_p.S208L	NM_017905	NP_060375	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	208						integral to membrane	solute:hydrogen antiporter activity				0	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			GACAATAAATCAGTAAGCGTT	0.408													15	43					0	0	0.003163	0	0
OR4K5	79317	broad.mit.edu	37	14	20388938	20388938	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:20388938C>T	uc010tkw.1	+	1	173	c.173C>T	c.(172-174)CCT>CTT	p.P58L		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K,	58	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGCACTCCCCTATGTACTTT	0.413													53	122					0	0	0.003610	0	0
OR4L1	122742	broad.mit.edu	37	14	20528601	20528601	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:20528601G>A	uc001vwn.1	+	1	398	c.398G>A	c.(397-399)AGG>AAG	p.R133K		NM_001004717	NP_001004717	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L,	133	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		CTGCACTATAGGACAATCATG	0.413													29	80					0	0	0.008361	0	0
OR4N5	390437	broad.mit.edu	37	14	20612398	20612398	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:20612398C>T	uc010tla.1	+	1	504	c.504C>T	c.(502-504)TTC>TTT	p.F168F		NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N,	168	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		ACTTGCCTTTCTGTGGCCCAA	0.493													36	71					0	0	0.005524	0	0
OR11H4	390442	broad.mit.edu	37	14	20711004	20711004	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:20711004C>T	uc010tld.1	+	1	54	c.54C>T	c.(52-54)ATC>ATT	p.I18I		NM_001004479	NP_001004479	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H,	18	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		CAACACACATCGTGACAGAGT	0.418													14	30					0	0	0.003163	0	0
TEP1	7011	broad.mit.edu	37	14	20846375	20846376	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:20846375_20846376GG>AA	uc001vxe.2	-	39	5568_5569	c.5528_5529CC>TT	c.(5527-5529)GCC>GTT	p.A1843V	TEP1_uc010ahk.2_Missense_Mutation_p.A1186V|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.A1735V|TEP1_uc010tlh.1_Missense_Mutation_p.A181V	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1843	WD 6.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TACGGATAGAGGCTCCGGGTGC	0.599													20	34					0	0	0.004672	0	0
RNASE12	493901	broad.mit.edu	37	14	21058713	21058713	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:21058713T>A	uc001vxt.2	-	1	270	c.170A>T	c.(169-171)GAA>GTA	p.E57V	RNASE11_uc010ahv.2_5'Flank|RNASE11_uc010ahx.2_5'Flank|RNASE11_uc010ahw.2_5'Flank|RNASE11_uc001vxs.2_5'Flank|uc001vxu.1_RNA	NM_001024822	NP_001019993	Q5GAN4	RNS12_HUMAN	ribonuclease, RNase A family, 12 (non-active)	57						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_cancers(95;0.00238)		Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.013)		GTGGTCAGGTTCCCTGATAAC	0.438													30	45					0	0	0.001786	0	0
RNASE13	440163	broad.mit.edu	37	14	21502418	21502418	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:21502418G>A	uc001vzj.2	-	2	168	c.30C>T	c.(28-30)TTC>TTT	p.F10F	NDRG2_uc010tll.1_Intron	NM_001012264	NP_001012264	Q5GAN3	RNS13_HUMAN	ribonuclease, RNase A family, 13 precursor	10						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			upper_aerodigestive_tract(1)	1	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.019)		CAAGCTGGAGGAAAAGGAGCC	0.542													15	24					0	0	0.004007	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21793014	21793014	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:21793014C>T	uc001wag.2	+	14	2000	c.2000C>T	c.(1999-2001)CCA>CTA	p.P667L	RPGRIP1_uc001wah.2_Missense_Mutation_p.P309L|RPGRIP1_uc001wai.2_Intron|RPGRIP1_uc001waj.1_Missense_Mutation_p.P132L|RPGRIP1_uc001wak.2_Missense_Mutation_p.P142L|RPGRIP1_uc010aim.2_Missense_Mutation_p.P50L|RPGRIP1_uc001wal.2_Intron|RPGRIP1_uc001wam.2_5'UTR	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator	667					response to stimulus|visual perception	cilium				ovary(4)|breast(2)|pancreas(1)	7	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CACTGTACCCCATTATCTGTG	0.522													37	126					0	0	0.006999	0	0
OR10G2	26534	broad.mit.edu	37	14	22102951	22102951	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:22102951G>A	uc010tmc.1	-	1	48	c.48C>T	c.(46-48)TTC>TTT	p.F16F		NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G,	16	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		CCAGAAGAATGAAATCTGTCA	0.458													36	86					0	0	0.002222	0	0
OR10G2	26534	broad.mit.edu	37	14	22102966	22102966	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:22102966G>A	uc010tmc.1	-	1	33	c.33C>T	c.(31-33)GCC>GCT	p.A11A		NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G,	11	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		CTGTCACCACGGCATCCAGCG	0.443													37	76					0	0	0.002852	0	0
LRP10	26020	broad.mit.edu	37	14	23346497	23346497	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:23346497C>T	uc001whd.2	+	7	2456	c.1903C>T	c.(1903-1905)CCT>TCT	p.P635S	LRP10_uc001whe.2_Intron	NM_014045	NP_054764	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein	635	Pro-rich.|Cytoplasmic (Potential).				endocytosis	coated pit|integral to membrane				central_nervous_system(1)	1	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		CACTACTGTCCCTGAAGCCCC	0.682													15	54					0	0	0.004990	0	0
HAUS4	54930	broad.mit.edu	37	14	23417112	23417112	+	Silent	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:23417112A>G	uc001whp.2	-	6	704	c.673T>C	c.(673-675)TTG>CTG	p.L225L	HAUS4_uc001who.2_Intron|HAUS4_uc001whq.2_Intron|HAUS4_uc001whr.2_Silent_p.L225L|HAUS4_uc001whs.2_Silent_p.L180L|HAUS4_uc001wht.2_Silent_p.L225L|HAUS4_uc001whu.2_Silent_p.L180L|HAUS4_uc001whv.2_Silent_p.L101L|HAUS4_uc001whw.2_Silent_p.L225L|HAUS4_uc001whx.2_Silent_p.L180L	NM_017815	NP_060285	Q9H6D7	HAUS4_HUMAN	HAUS augmin-like complex, subunit 4	225					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				ovary(1)	1						TCCAGCAGCAACATCTGCTCC	0.557													27	48					0	0	0.008361	0	0
ACIN1	22985	broad.mit.edu	37	14	23549735	23549735	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:23549735G>A	uc001wit.3	-	6	1311	c.983C>T	c.(982-984)TCC>TTC	p.S328F	ACIN1_uc001wis.3_Missense_Mutation_p.S10F|ACIN1_uc010akg.2_Missense_Mutation_p.S328F|ACIN1_uc010tnj.1_Missense_Mutation_p.S288F	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	328	Glu-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)		CTGTTCCTGGGATCTTGTTTT	0.473													24	57					0	0	0.003330	0	0
CMTM5	116173	broad.mit.edu	37	14	23848025	23848025	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:23848025G>A	uc010akm.2	+	3	871	c.427G>A	c.(427-429)GGC>AGC	p.G143S	CMTM5_uc001wjs.2_Intron|CMTM5_uc001wjt.2_Intron|CMTM5_uc010akn.2_Intron|CMTM5_uc001wju.2_Intron|CMTM5_uc010ako.2_Intron	NM_138460	NP_612469	Q96DZ9	CKLF5_HUMAN	chemokine-like factor superfamily 5 isoform a	143	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity				0	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)		CCCAGCGCCTGGCTTCTGGTC	0.617													8	17					0	0	0.006214	0	0
RNF31	55072	broad.mit.edu	37	14	24621198	24621199	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:24621198_24621199CC>TT	uc001wmn.1	+	11	2376_2377	c.2127_2128CC>TT	c.(2125-2130)AACCGG>AATTGG	p.R710W	RNF31_uc001wml.1_Missense_Mutation_p.R559W|RNF31_uc001wmm.1_RNA|RNF31_uc010alg.1_Missense_Mutation_p.R469W|RNF31_uc001wmo.1_Missense_Mutation_p.R177W|RNF31_uc001wmp.2_RNA	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	ring finger protein 31	710	RING-type; degenerate.				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(1)|ovary(1)	2				GBM - Glioblastoma multiforme(265;0.00861)		TGCCCCACAACCGGGTAAGTCC	0.594													7	15					0	0	0.004672	0	0
TGM1	7051	broad.mit.edu	37	14	24729894	24729894	+	Silent	SNP	G	A	A	rs139811103	byFrequency	TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:24729894G>A	uc001wod.2	-	4	643	c.519C>T	c.(517-519)CCC>CCT	p.P173P	TGM1_uc010tog.1_Intron	NM_000359	NP_000350	P22735	TGM1_HUMAN	transglutaminase 1	173					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	TGCCCACCTCGGGGTTGTTTC	0.612													17	22					0	0	0.006122	0	0
C14orf21	161424	broad.mit.edu	37	14	24769719	24769719	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:24769719C>T	uc001wol.1	+	2	416	c.353C>T	c.(352-354)CCC>CTC	p.P118L	C14orf21_uc001wom.1_5'Flank|DHRS1_uc001woj.1_5'Flank|DHRS1_uc001wok.2_5'Flank	NM_174913	NP_777573	Q86U38	CN021_HUMAN	hypothetical protein LOC161424	118	Pumilio 1.						RNA binding			breast(2)|central_nervous_system(1)|skin(1)	4				GBM - Glioblastoma multiforme(265;0.0185)		GGATTCAGTCCCTTGAAACCG	0.522													25	51					0	0	0.003954	0	0
ADCY4	196883	broad.mit.edu	37	14	24791887	24791887	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:24791887C>T	uc001wov.2	-	19	2376	c.2370G>A	c.(2368-2370)CTG>CTA	p.L790L	ADCY4_uc001wow.2_Silent_p.L790L|ADCY4_uc010toh.1_Silent_p.L476L|ADCY4_uc001wox.2_Silent_p.L790L|ADCY4_uc001woy.2_Silent_p.L790L	NM_139247	NP_640340	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	790					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			ovary(1)|lung(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(265;0.0192)		TAGCACCCATCAGTTTGGGCT	0.607													11	23					0	0	0.002450	0	0
RIPK3	11035	broad.mit.edu	37	14	24808666	24808666	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:24808666T>C	uc001wpb.2	-	2	368	c.158A>G	c.(157-159)AAC>AGC	p.N53S	RIPK3_uc001wpa.2_5'Flank|RIPK3_uc010alq.2_RNA|RIPK3_uc010toi.1_5'UTR|RIPK3_uc010toj.1_Missense_Mutation_p.N53S	NM_006871	NP_006862	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	53	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity			central_nervous_system(2)|ovary(1)|lung(1)	4				GBM - Glioblastoma multiforme(265;0.0181)		CACTCACGAGTTTACGATCTT	0.597													41	76					0	0	0.002522	0	0
NYNRIN	57523	broad.mit.edu	37	14	24877642	24877642	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:24877642G>A	uc001wpf.3	+	3	1084	c.766G>A	c.(766-768)GAA>AAA	p.E256K		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	hypothetical protein LOC57523	256					DNA integration	integral to membrane	DNA binding			ovary(2)|central_nervous_system(1)	3						CAGGGGCCCAGAAAATTCAAA	0.592													13	34					0	0	0.004007	0	0
SCFD1	23256	broad.mit.edu	37	14	31142536	31142536	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:31142536C>T	uc001wqm.1	+	12	1093	c.1069C>T	c.(1069-1071)CGA>TGA	p.R357*	SCFD1_uc001wqn.1_Nonsense_Mutation_p.R290*|SCFD1_uc010tpg.1_Nonsense_Mutation_p.R298*|SCFD1_uc010tph.1_Nonsense_Mutation_p.R172*|SCFD1_uc010amf.1_Nonsense_Mutation_p.R172*|SCFD1_uc010tpi.1_Nonsense_Mutation_p.R265*|SCFD1_uc010amd.1_Nonsense_Mutation_p.R189*|SCFD1_uc010ame.1_Nonsense_Mutation_p.R290*	NM_016106	NP_057190	Q8WVM8	SCFD1_HUMAN	vesicle transport-related protein isoform a	357					post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding				0	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		TGAGGTCAAACGACTTAAAAG	0.348													23	49					0	0	0.005443	0	0
HECTD1	25831	broad.mit.edu	37	14	31570518	31570518	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:31570518C>T	uc001wrc.1	-	42	8052	c.7563G>A	c.(7561-7563)CTG>CTA	p.L2521L	HECTD1_uc001wra.1_Silent_p.L647L|HECTD1_uc001wrb.1_Silent_p.L647L	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1	2521	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TCACAAACCTCAGGAAACCAG	0.408													19	43					0	0	0.003330	0	0
ARHGAP5	394	broad.mit.edu	37	14	32561408	32561408	+	Silent	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:32561408T>C	uc001wrl.2	+	2	1772	c.1533T>C	c.(1531-1533)AGT>AGC	p.S511S	ARHGAP5_uc001wrm.2_Silent_p.S511S|ARHGAP5_uc001wrn.2_Silent_p.S511S|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5 isoform b	511	FF 4.				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			ovary(4)|central_nervous_system(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		CAACACCTAGTTCAGATAAAA	0.338													15	35					0	0	0.002450	0	0
AKAP6	9472	broad.mit.edu	37	14	33015221	33015222	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:33015221_33015222GT>AA	uc001wrq.2	+	4	1532_1533	c.1362_1363GT>AA	c.(1360-1365)CAGTCT>CAAACT	p.S455T	AKAP6_uc010aml.2_Missense_Mutation_p.S452T	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	455					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CTGCCAGCCAGTCTTATGAGTG	0.47													74	192					0	0	0.004672	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36154224	36154224	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:36154224G>A	uc001wti.2	-	19	3078	c.2687C>T	c.(2686-2688)CCT>CTT	p.P896L	RALGAPA1_uc001wtj.2_Missense_Mutation_p.P896L|RALGAPA1_uc010tpv.1_Missense_Mutation_p.P909L|RALGAPA1_uc010tpw.1_Missense_Mutation_p.P943L|RALGAPA1_uc001wtk.1_Missense_Mutation_p.P794L	NM_014990	NP_055805	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1	896					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(3)|breast(1)	4						TGCACTGGCAGGAGAAGTCCA	0.478													7	14					0	0	0.006214	0	0
SEC23A	10484	broad.mit.edu	37	14	39508292	39508292	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:39508292G>A	uc001wup.1	-	19	2374	c.2151C>T	c.(2149-2151)TTC>TTT	p.F717F	SEC23A_uc010tqa.1_Silent_p.F603F|SEC23A_uc010tqb.1_Silent_p.F688F	NM_006364	NP_006355	Q15436	SC23A_HUMAN	SEC23-related protein A	717					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)	5	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		TTGAAAGGAGGAAACGGGCCT	0.323													26	59					0	0	0.004656	0	0
FSCB	84075	broad.mit.edu	37	14	44975513	44975513	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:44975513G>A	uc001wvn.2	-	1	987	c.678C>T	c.(676-678)CCC>CCT	p.P226P		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	226						cilium				lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9				GBM - Glioblastoma multiforme(112;0.128)		AAAGTACCGGGGGACCTTTTT	0.408													38	57					0	0	0.006230	0	0
FANCM	57697	broad.mit.edu	37	14	45618195	45618195	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:45618195C>T	uc001wwd.3	+	4	1014	c.915C>T	c.(913-915)ATC>ATT	p.I305I	FANCM_uc001wwc.2_Silent_p.I305I|FANCM_uc010anf.2_Silent_p.I279I	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	305					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			ovary(3)|lung(2)|breast(2)	7						AGACCTATATCCAGGTAAACC	0.313								Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				12	30					0	0	0.001855	0	0
MAP4K5	11183	broad.mit.edu	37	14	50901138	50901138	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:50901138G>C	uc001wya.2	-	27	2458	c.2138C>G	c.(2137-2139)TCT>TGT	p.S713C	MAP4K5_uc001wyb.2_Missense_Mutation_p.S713C	NM_006575	NP_006566	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase	713	CNH.				activation of JUN kinase activity	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			large_intestine(1)	1	all_epithelial(31;0.000415)|Breast(41;0.0102)					AAACCATGAAGATGCAGAGTT	0.348													8	18					0	0	0.004482	0	0
SAV1	60485	broad.mit.edu	37	14	51132153	51132153	+	Silent	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:51132153T>C	uc001wyg.1	-	3	440	c.279A>G	c.(277-279)TTA>TTG	p.L93L	SAV1_uc001wyh.1_Silent_p.L93L	NM_021818	NP_068590	Q9H4B6	SAV1_HUMAN	WW45 protein	93					hippo signaling cascade	cytoplasm|nucleus	identical protein binding			breast(1)	1	all_epithelial(31;0.000611)|Breast(41;0.0333)					AAGGTGCAGATAATCTGTTGC	0.378													12	17					0	0	0.002450	0	0
NID2	22795	broad.mit.edu	37	14	52520456	52520456	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:52520456G>A	uc001wzo.2	-	5	1504	c.1270C>T	c.(1270-1272)CCA>TCA	p.P424S	NID2_uc010tqs.1_Missense_Mutation_p.P424S|NID2_uc010tqt.1_Missense_Mutation_p.P424S|NID2_uc001wzp.2_Missense_Mutation_p.P424S	NM_007361	NP_031387	Q14112	NID2_HUMAN	nidogen 2 precursor	424						basement membrane	calcium ion binding|collagen binding			pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7	Breast(41;0.0639)|all_epithelial(31;0.123)					CCTCCATCTGGGTAGGGCTGG	0.552													25	49					0	0	0.003330	0	0
KIAA0586	9786	broad.mit.edu	37	14	58938959	58938959	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:58938959C>T	uc001xdv.3	+	17	2641	c.2368C>T	c.(2368-2370)CCA>TCA	p.P790S	KIAA0586_uc010trr.1_Missense_Mutation_p.P907S|KIAA0586_uc001xdt.3_Missense_Mutation_p.P822S|KIAA0586_uc001xdu.3_Missense_Mutation_p.P851S|KIAA0586_uc010trs.1_Missense_Mutation_p.P781S|KIAA0586_uc010trt.1_Missense_Mutation_p.P726S|KIAA0586_uc010tru.1_Missense_Mutation_p.P726S	NM_014749	NP_055564	E9PGW8	E9PGW8_HUMAN	talpid3 protein	790										ovary(1)	1						GGTGAAGTTTCCAGGAACTAA	0.318													9	10					0	0	0.008291	0	0
KCNH5	27133	broad.mit.edu	37	14	63174358	63174358	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:63174358T>A	uc001xfx.2	-	11	2886	c.2835A>T	c.(2833-2835)AAA>AAT	p.K945N	KCNH5_uc001xfy.2_3'UTR	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H,	945	CAD (involved in subunit assembly) (By similarity).|Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			ovary(4)|skin(4)|central_nervous_system(1)	9				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GGGGTACGCTTTTTTCCGACA	0.468													53	160					0	0	0.003610	0	0
KCNH5	27133	broad.mit.edu	37	14	63416913	63416913	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:63416913C>T	uc001xfx.2	-	7	1358	c.1307G>A	c.(1306-1308)GGA>GAA	p.G436E	KCNH5_uc001xfy.2_Missense_Mutation_p.G436E|KCNH5_uc001xfz.1_Missense_Mutation_p.G378E|KCNH5_uc001xga.2_Missense_Mutation_p.G378E	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H,	436	Selectivity filter (By similarity).				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			ovary(4)|skin(4)|central_nervous_system(1)	9				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		AGCTATGTTTCCAAATCCTAT	0.398													23	42					0	0	0.002299	0	0
KCNH5	27133	broad.mit.edu	37	14	63453898	63453898	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:63453898C>T	uc001xfx.2	-	5	492	c.441G>A	c.(439-441)ACG>ACA	p.T147T	KCNH5_uc001xfy.2_Silent_p.T147T|KCNH5_uc001xfz.1_Silent_p.T89T|KCNH5_uc001xga.2_Silent_p.T89T	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H,	147	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			ovary(4)|skin(4)|central_nervous_system(1)	9				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GGGCAAATTTCGTCCAACCTT	0.388													32	63					0	0	0.002445	0	0
SYNE2	23224	broad.mit.edu	37	14	64453314	64453314	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:64453314C>T	uc001xgm.2	+	19	2522	c.2292C>T	c.(2290-2292)ACC>ACT	p.T764T	SYNE2_uc001xgl.2_Silent_p.T764T	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	764	Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ATGTGGACACCTCAATGGAAG	0.353													27	68					0	0	0.008361	0	0
SYNE2	23224	broad.mit.edu	37	14	64476794	64476794	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:64476794C>T	uc001xgm.2	+	32	4918	c.4688C>T	c.(4687-4689)TCG>TTG	p.S1563L	SYNE2_uc001xgl.2_Missense_Mutation_p.S1563L	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1563	Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTGCAGGCTTCGTACATGGGA	0.428													9	21					0	0	0.008291	0	0
SPTB	6710	broad.mit.edu	37	14	65262154	65262154	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:65262154C>T	uc001xht.2	-	11	1599	c.1545G>A	c.(1543-1545)GAG>GAA	p.E515E	SPTB_uc001xhr.2_Silent_p.E515E|SPTB_uc001xhs.2_Silent_p.E515E|SPTB_uc001xhu.2_Silent_p.E515E	NM_000347	NP_000338	P11277	SPTB1_HUMAN	spectrin beta isoform b	515	Spectrin 3.				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		ACTGCAGCAGCTCCTGCAGGT	0.587													17	41					0	0	0.004990	0	0
FAM71D	161142	broad.mit.edu	37	14	67664924	67664924	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:67664924G>A	uc001xja.1	+	3	300	c.46G>A	c.(46-48)GAT>AAT	p.D16N	FAM71D_uc010tsv.1_RNA|FAM71D_uc001xiz.2_RNA|FAM71D_uc010aqn.1_RNA	NM_173526	NP_775797	Q8N9W8	FA71D_HUMAN	hypothetical protein LOC161142	16										ovary(1)	1		all_hematologic(31;0.0116)		all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012)		CAATAAGCAAGATGCTCTCTG	0.433													41	89					0	0	0.002522	0	0
SLC8A3	6547	broad.mit.edu	37	14	70527656	70527656	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:70527656C>T	uc001xly.2	-	3	2539	c.1785G>A	c.(1783-1785)GTG>GTA	p.V595V	SLC8A3_uc001xlu.2_Intron|SLC8A3_uc001xlv.2_5'UTR|SLC8A3_uc001xlw.2_Silent_p.V595V|SLC8A3_uc001xlx.2_Intron|SLC8A3_uc001xlz.2_Silent_p.V595V|SLC8A3_uc010ara.2_Intron|SLC8A3_uc001xma.2_Intron	NM_183002	NP_892114	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium	595	Calx-beta 2.|Cytoplasmic (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			skin(3)|ovary(2)|breast(2)	7				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TTATGGTTTTCCTGTAGGGAC	0.458													12	36					0	0	0.001368	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634643	70634643	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:70634643C>T	uc001xly.2	-	2	1251	c.497G>A	c.(496-498)GGA>GAA	p.G166E	SLC8A3_uc001xlw.2_Missense_Mutation_p.G166E|SLC8A3_uc001xlx.2_Missense_Mutation_p.G166E|SLC8A3_uc001xlz.2_Missense_Mutation_p.G166E|SLC8A3_uc010ara.2_RNA	NM_183002	NP_892114	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium	166	Alpha-1.|Helical; (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			skin(3)|ovary(2)|breast(2)	7				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GGTAGAAGGTCCCAGATCACC	0.502													19	49					0	0	0.008871	0	0
RGS6	9628	broad.mit.edu	37	14	72921280	72921280	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:72921280G>A	uc001xna.3	+	4	752	c.229G>A	c.(229-231)GAC>AAC	p.D77N	RGS6_uc010ttn.1_Missense_Mutation_p.D77N|RGS6_uc001xmx.3_Missense_Mutation_p.D77N|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Missense_Mutation_p.D77N|RGS6_uc010ttp.1_Missense_Mutation_p.D8N|RGS6_uc010arg.2_RNA	NM_004296	NP_004287	P49758	RGS6_HUMAN	regulator of G-protein signalling 6	77	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			upper_aerodigestive_tract(1)|lung(1)|skin(1)	3				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		TTCCATTGAGGACCCAGGTAC	0.478													35	85					0	0	0.002522	0	0
RGS6	9628	broad.mit.edu	37	14	72941367	72941367	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:72941367G>A	uc001xna.3	+	10	1176	c.653G>A	c.(652-654)CGA>CAA	p.R218Q	RGS6_uc010ttn.1_Missense_Mutation_p.R218Q|RGS6_uc001xmx.3_Missense_Mutation_p.R218Q|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Missense_Mutation_p.R218Q|RGS6_uc010ttp.1_Missense_Mutation_p.R149Q|RGS6_uc001xmz.1_Missense_Mutation_p.R79Q	NM_004296	NP_004287	P49758	RGS6_HUMAN	regulator of G-protein signalling 6	218					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			upper_aerodigestive_tract(1)|lung(1)|skin(1)	3				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		ATGGATATCCGAAAATGTCGA	0.363													13	27					0	0	0.004007	0	0
DNAL1	83544	broad.mit.edu	37	14	74125602	74125602	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:74125602C>T	uc001xoq.3	+	3	260	c.95C>T	c.(94-96)GCC>GTC	p.A32V	DNAL1_uc010aru.2_5'UTR|DNAL1_uc010arv.2_Intron	NM_031427	NP_113615	Q4LDG9	DNAL1_HUMAN	axonemal dynein light chain 1	32											0				BRCA - Breast invasive adenocarcinoma(234;0.00384)|KIRC - Kidney renal clear cell carcinoma(182;0.095)		AAACTTTATGCCCAGATTCCC	0.413													80	240					0	0	0.003610	0	0
PNMA1	9240	broad.mit.edu	37	14	74179835	74179835	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:74179835G>A	uc001xor.1	-	1	1294	c.508C>T	c.(508-510)CCA>TCA	p.P170S		NM_006029	NP_006020	Q8ND90	PNMA1_HUMAN	paraneoplastic antigen MA1	170					apoptosis|central nervous system development|inflammatory response to antigenic stimulus|spermatogenesis	cytoplasm|focal adhesion|nucleolus	protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)		ccaggccctgggatgtccctc	0													19	43					0	0	0.008871	0	0
C14orf115	55237	broad.mit.edu	37	14	74825492	74825492	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:74825492C>T	uc001xpw.3	+	2	2197	c.2006C>T	c.(2005-2007)CCC>CTC	p.P669L		NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	hypothetical protein LOC55237	669					transposition, DNA-mediated		DNA binding|transposase activity				0				BRCA - Breast invasive adenocarcinoma(234;0.00147)		AAGAGCTTTCCCTCCTACAAG	0.572													15	55					0	0	0.007413	0	0
LTBP2	4053	broad.mit.edu	37	14	75078154	75078154	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:75078154C>T	uc001xqa.2	-	1	881	c.494G>A	c.(493-495)GGG>GAG	p.G165E		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	165					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)		CCATGCTCACCCCGTGAGCCG	0.731													22	42					0	0	0.003954	0	0
MLH3	27030	broad.mit.edu	37	14	75483880	75483880	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:75483880G>A	uc001xrd.1	-	13	4483	c.4267C>T	c.(4267-4269)CGC>TGC	p.R1423C	MLH3_uc001xre.1_Missense_Mutation_p.R1399C	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN	mutL homolog 3 isoform 1	1423					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00688)		GCCATTTTGCGAAGTTTAGTG	0.408								MMR					22	61					0	0	0.001523	0	0
C14orf166B	145497	broad.mit.edu	37	14	77297647	77297647	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:77297647G>A	uc001xsx.2	+	3	433	c.319G>A	c.(319-321)GAG>AAG	p.E107K	C14orf166B_uc010asn.1_5'UTR|C14orf166B_uc001xsw.2_RNA|C14orf166B_uc010aso.1_RNA|C14orf166B_uc010tvg.1_RNA|C14orf166B_uc010tvh.1_RNA	NM_194287	NP_919263	Q0VAA2	CN16B_HUMAN	hypothetical protein LOC145497	107											0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		GAACATGGAGGAGTCCTACGT	0.537													33	64					0	0	0.004878	0	0
TMEM63C	57156	broad.mit.edu	37	14	77709291	77709291	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:77709291C>T	uc001xtf.2	+	15	1445	c.1233C>T	c.(1231-1233)ATC>ATT	p.I411I	TMEM63C_uc010asq.1_Silent_p.I411I	NM_020431	NP_065164	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	411	Helical; (Potential).					integral to membrane					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		CCCGCTTTATCGCAATCAACA	0.512													18	46					0	0	0.008871	0	0
NRXN3	9369	broad.mit.edu	37	14	79181348	79181348	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:79181348C>T	uc001xun.2	+	5	1282	c.791C>T	c.(790-792)TCC>TTC	p.S264F	NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.S398F	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	637	Extracellular (Potential).|Laminin G-like 3.				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GGTGTCAAGTCCTCCTGTTCA	0.552													9	22					0	0	0.008291	0	0
KCNK10	54207	broad.mit.edu	37	14	88693765	88693765	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:88693765C>T	uc001xwo.2	-	4	1077	c.620G>A	c.(619-621)GGA>GAA	p.G207E	KCNK10_uc001xwm.2_Missense_Mutation_p.G212E|KCNK10_uc001xwn.2_Missense_Mutation_p.G212E	NM_021161	NP_066984	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	207	Cytoplasmic (Potential).				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			ovary(2)|skin(2)|pancreas(1)	5						AAAGATGGTTCCAAGTTGGTC	0.413													36	87					0	0	0.002836	0	0
FOXN3	1112	broad.mit.edu	37	14	89629013	89629013	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:89629013C>T	uc001xxo.3	-	7	1355	c.1218G>A	c.(1216-1218)AAG>AAA	p.K406K	FOXN3_uc001xxn.3_Silent_p.K384K|FOXN3_uc010atk.2_Silent_p.K384K	NM_001085471	NP_001078940	O00409	FOXN3_HUMAN	checkpoint suppressor 1 isoform 1	406					DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			skin(2)|ovary(1)	3						CCAGAGAATCCTTGGGCTCCT	0.647													24	32					0	0	0.007291	0	0
RPS6KA5	9252	broad.mit.edu	37	14	91338611	91338611	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:91338611G>A	uc001xys.2	-	17	2431	c.2216C>T	c.(2215-2217)CCT>CTT	p.P739L	RPS6KA5_uc010twi.1_Missense_Mutation_p.P660L	NM_004755	NP_004746	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, polypeptide 5	739					axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(1)	1		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		CTTAGCCAAAGGGGCCTTATC	0.468													12	33					0	0	0.000978	0	0
CCDC88C	440193	broad.mit.edu	37	14	91739898	91739898	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:91739898C>T	uc010aty.2	-	30	5257	c.5158G>A	c.(5158-5160)GAA>AAA	p.E1720K	CCDC88C_uc001xzj.2_Missense_Mutation_p.E244K|CCDC88C_uc001xzi.2_Missense_Mutation_p.E170K	NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	DVL-binding protein DAPLE	1720					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)				TTGGCCCCTTCTTTCTTGGCA	0.637													10	32					0	0	0.006214	0	0
CCDC88C	440193	broad.mit.edu	37	14	91744466	91744466	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:91744466C>T	uc010aty.2	-	29	4957	c.4858G>A	c.(4858-4860)GCC>ACC	p.A1620T	CCDC88C_uc001xzj.2_Missense_Mutation_p.A144T|CCDC88C_uc001xzi.2_Missense_Mutation_p.A70T	NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	DVL-binding protein DAPLE	1620					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)				GGTGTGCTGGCTTCCCGGGGC	0.687													10	16					0	0	0.006214	0	0
FBLN5	10516	broad.mit.edu	37	14	92347661	92347661	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:92347661C>T	uc001xzx.3	-	9	1437	c.964G>A	c.(964-966)GAG>AAG	p.E322K	FBLN5_uc010aud.2_Missense_Mutation_p.E327K|FBLN5_uc010aue.2_Missense_Mutation_p.E363K	NM_006329	NP_006320	Q9UBX5	FBLN5_HUMAN	fibulin 5 precursor	322	EGF-like 6; calcium-binding (Potential).				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6		all_cancers(154;0.0722)				AGATAAGGCTCCTCACAGCGG	0.532													16	22					0	0	0.004990	0	0
SLC24A4	123041	broad.mit.edu	37	14	92922848	92922848	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:92922848C>T	uc001yak.2	+	12	1124	c.1100C>T	c.(1099-1101)CCC>CTC	p.P367L	SLC24A4_uc001yai.2_Missense_Mutation_p.P320L|SLC24A4_uc010twm.1_Missense_Mutation_p.P365L|SLC24A4_uc001yaj.2_Missense_Mutation_p.P348L|SLC24A4_uc010auj.2_Missense_Mutation_p.P256L|SLC24A4_uc010twn.1_Missense_Mutation_p.P140L|SLC24A4_uc001yan.2_Missense_Mutation_p.P78L	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN	solute carrier family 24 member 4 isoform 1	384	Extracellular (Potential).					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)		GTGGAAAACCCCGAAGACCCT	0.602											OREG0022876	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	32					0	0	0.004007	0	0
SLC24A4	123041	broad.mit.edu	37	14	92953125	92953125	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:92953125G>A	uc001yak.2	+	14	1510	c.1486_splice	c.e14+1	p.G496_splice	SLC24A4_uc001yai.2_Splice_Site_p.G449_splice|SLC24A4_uc010twm.1_Splice_Site_p.G494_splice|SLC24A4_uc001yaj.2_Splice_Site_p.G477_splice|SLC24A4_uc010auj.2_Splice_Site_p.G385_splice|SLC24A4_uc010twn.1_Splice_Site_p.G269_splice|SLC24A4_uc001yan.2_Splice_Site_p.G207_splice	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN	solute carrier family 24 member 4 isoform 1							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)		GCGAGACAAGGTATGGATTAT	0.532													4	13					0	0	0.000602	0	0
KIAA1409	57578	broad.mit.edu	37	14	94044293	94044293	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:94044293C>T	uc001ybv.1	+	15	1869	c.1786C>T	c.(1786-1788)CGT>TGT	p.R596C	KIAA1409_uc001ybs.1_Missense_Mutation_p.R596C	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	773						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		TAGTCCGTTTCGTAGCCCTTT	0.433													55	136					0	0	0.003610	0	0
KIAA1409	57578	broad.mit.edu	37	14	94083641	94083641	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:94083641C>T	uc001ybv.1	+	26	3833	c.3750C>T	c.(3748-3750)ATC>ATT	p.I1250I	KIAA1409_uc001ybs.1_Silent_p.I1228I	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	1405						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		TGCTTGTCATCCTTTACAAGG	0.488													30	64					0	0	0.002836	0	0
FAM181A	90050	broad.mit.edu	37	14	94391701	94391701	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:94391701G>A	uc001ybz.1	+	2	391	c.84G>A	c.(82-84)ACG>ACA	p.T28T	C14orf86_uc001yby.2_Intron|FAM181A_uc010aus.1_5'Flank|FAM181A_uc001yca.1_5'Flank	NM_138344	NP_612353	Q8N9Y4	F181A_HUMAN	hypothetical protein LOC90050	28											0						AGAAAAGGGCGAGCACAGCAA	0.532													10	22					0	0	0.000978	0	0
PPP4R4	57718	broad.mit.edu	37	14	94700975	94700975	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:94700975C>T	uc001ycs.1	+	7	854	c.700C>T	c.(700-702)CGG>TGG	p.R234W		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	HEAT-like repeat-containing protein isoform 1	234	HEAT 1.					cytoplasm|protein serine/threonine phosphatase complex	protein binding			skin(3)|upper_aerodigestive_tract(1)	4						TTGTATGTGTCGGCAATTAGA	0.378													19	44					0	0	0.001882	0	0
SERPINA11	256394	broad.mit.edu	37	14	94914509	94914509	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:94914509C>T	uc001ydd.1	-	2	663	c.603G>A	c.(601-603)CAG>CAA	p.Q201Q		NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1	201					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			kidney(1)	1				COAD - Colon adenocarcinoma(157;0.211)		TGAACGTGTCCTGGCTGAACT	0.468													42	98					0	0	0.008740	0	0
SERPINA12	145264	broad.mit.edu	37	14	94962913	94962913	+	Silent	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:94962913A>G	uc001ydj.2	-	4	1498	c.702T>C	c.(700-702)AGT>AGC	p.S234S		NM_173850	NP_776249	Q8IW75	SPA12_HUMAN	serine (or cysteine) proteinase inhibitor, clade	234					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(2)|ovary(1)|lung(1)	4				COAD - Colon adenocarcinoma(157;0.235)		CCTTGACTGAACTGTTTTTCT	0.398													38	79					0	0	0.006999	0	0
CLMN	79789	broad.mit.edu	37	14	95670239	95670239	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:95670239C>T	uc001yef.2	-	9	1563	c.1447G>A	c.(1447-1449)GAA>AAA	p.E483K		NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN	calmin	483						integral to membrane	actin binding				0				Epithelial(152;0.193)		GAGGAGGATTCTGGAATCTTC	0.463													13	27					0	0	0.002450	0	0
ATG2B	55102	broad.mit.edu	37	14	96798681	96798681	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:96798681G>T	uc001yfi.2	-	10	1794	c.1429C>A	c.(1429-1431)CCA>ACA	p.P477T		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	ATG2 autophagy related 2 homolog B	477										ovary(1)|kidney(1)|skin(1)	3		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AGGTTGGATGGAAATGTTGAC	0.368													38	87					2.13384e-23	2.79839e-23	0.003610	1	0
AK7	122481	broad.mit.edu	37	14	96871137	96871137	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:96871137A>G	uc001yfn.2	+	3	382	c.338A>G	c.(337-339)GAT>GGT	p.D113G		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	adenylate kinase 7	113	Potential.				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			ovary(1)	1		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		CTGGAGTGTGATGTTATTATT	0.458													34	49					0	0	0.007835	0	0
C14orf177	283598	broad.mit.edu	37	14	99182645	99182645	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:99182645G>A	uc001yfz.1	+	3	536	c.117G>A	c.(115-117)GGG>GGA	p.G39G		NM_182560	NP_872366	Q52M58	CN177_HUMAN	hypothetical protein LOC283598	39											0		Melanoma(154;0.128)				TTGGTGAAGGGAAATGCCCAA	0.552													18	19					0	0	0.007413	0	0
BCL11B	64919	broad.mit.edu	37	14	99641885	99641885	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:99641885C>T	uc001yga.2	-	4	1555	c.1288G>A	c.(1288-1290)GAG>AAG	p.E430K	BCL11B_uc001ygb.2_Missense_Mutation_p.E359K	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B isoform 1	430	C2H2-type 2.					nucleus	zinc ion binding			central_nervous_system(8)|large_intestine(1)|lung(1)	10		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CCGCAGAACTCGCACGACTTG	0.687			T	TLX3	T-ALL								12	16					0	0	0.002450	0	0
CYP46A1	10858	broad.mit.edu	37	14	100182258	100182258	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:100182258G>A	uc001ygo.2	+	8	805	c.805G>A	c.(805-807)GAG>AAG	p.E269K	CYP46A1_uc001ygp.2_Missense_Mutation_p.E116K	NM_006668	NP_006659	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46	269					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity				0		Melanoma(154;0.0866)|all_epithelial(191;0.179)				GAAGAGGGGCGAGGAGGTTCC	0.677													14	28					0	0	0.002450	0	0
CYP46A1	10858	broad.mit.edu	37	14	100187630	100187630	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:100187630G>A	uc001ygo.2	+	11	1035	c.1035G>A	c.(1033-1035)GAG>GAA	p.E345E	CYP46A1_uc001ygp.2_Silent_p.E192E	NM_006668	NP_006659	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46	345					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity				0		Melanoma(154;0.0866)|all_epithelial(191;0.179)				TGGATTTCGAGGACCTGGGGA	0.562													20	44					0	0	0.001882	0	0
RTL1	388015	broad.mit.edu	37	14	101349378	101349378	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:101349378C>T	uc010txj.1	-	1	1807	c.1748G>A	c.(1747-1749)GGA>GAA	p.G583E	uc001yig.3_RNA|MIR127_hsa-mir-127|MI0000472_RNA|MIR432_hsa-mir-432|MI0003133_5'Flank|uc010txk.1_5'Flank|MIR136_hsa-mir-136|MI0000475_5'Flank	NM_001134888	NP_001128360	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	583										pancreas(1)	1						ATCATCGGATCCGTCTGAGCT	0.567													25	43					0	0	0.002445	0	0
MIR377	494326	broad.mit.edu	37	14	101528447	101528447	+	RNA	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:101528447T>A	hsa-mir-377|MI0000785	+			c.61T>A			uc010awh.1_RNA|MIR541_hsa-mir-541|MI0005539_5'Flank																	0						CAAAGGCAACTTTTGTTTGAG	0.517													19	46					0	0	0.007413	0	0
HSP90AA1	3320	broad.mit.edu	37	14	102552569	102552569	+	Silent	SNP	A	T	T	rs143957536		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:102552569A>T	uc001yku.3	-	2	337	c.147T>A	c.(145-147)ATT>ATA	p.I49I	HSP90AA1_uc001ykv.3_Silent_p.I171I|HSP90AA1_uc001ykw.1_5'UTR|HSP90AA1_uc001ykx.1_Silent_p.I38I	NM_005348	NP_005339	P07900	HS90A_HUMAN	heat shock 90kDa protein 1, alpha isoform 2	49					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			ovary(2)|central_nervous_system(2)|prostate(1)|lung(1)|breast(1)	7					Rifabutin(DB00615)	ATGAATTTGAAATGAGCTCTC	0.378													12	38					0	0	0.001368	0	0
TECPR2	9895	broad.mit.edu	37	14	102901338	102901338	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:102901338C>T	uc001ylw.1	+	9	2332	c.2184C>T	c.(2182-2184)GTC>GTT	p.V728V	TECPR2_uc010awl.2_Silent_p.V728V|TECPR2_uc010txx.1_Intron	NM_014844	NP_055659	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	728							protein binding			lung(1)|central_nervous_system(1)|skin(1)	3						TGACTCCGGTCTCTGCCTTGG	0.557													21	42					0	0	0.001882	0	0
EIF5	1983	broad.mit.edu	37	14	103804740	103804740	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:103804740C>T	uc001ymq.2	+	7	1038	c.516C>T	c.(514-516)TCC>TCT	p.S172S	EIF5_uc001ymr.2_Silent_p.S172S|EIF5_uc001yms.2_Silent_p.S172S|EIF5_uc001ymt.2_Silent_p.S172S|EIF5_uc001ymu.2_Silent_p.S172S	NM_001969	NP_001960	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	172					regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity			pancreas(1)|breast(1)|skin(1)	3		Melanoma(154;0.155)	Epithelial(46;0.182)			aaaATGGCTCCGTATCCAGCA	0.279													4	7					0	0	0.000248	0	0
PPP1R13B	23368	broad.mit.edu	37	14	104208499	104208499	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:104208499C>T	uc001yof.1	-	11	1733	c.1450G>A	c.(1450-1452)GAA>AAA	p.E484K	PPP1R13B_uc010awv.1_RNA|PPP1R13B_uc001yog.1_Missense_Mutation_p.E351K	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN	apoptosis-stimulating protein of p53, 1	484	Pro-rich.				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)				AAGCTGCCTTCCTTCCTCCTT	0.642													16	48					0	0	0.006122	0	0
KIAA0284	283638	broad.mit.edu	37	14	105353067	105353067	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:105353067C>T	uc010axb.2	+	12	2715	c.2491C>T	c.(2491-2493)CCA>TCA	p.P831S	INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Missense_Mutation_p.P761S|KIAA0284_uc001yps.2_Missense_Mutation_p.P737S|KIAA0284_uc001ypt.2_5'Flank	NM_001112726	NP_001106197	Q9Y4F5	K0284_HUMAN	hypothetical protein LOC283638 isoform 1	831						cytoplasm|microtubule				breast(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		GCCCAGCCCCCCAGCACGGGA	0.637													7	21					0	0	0.001984	0	0
AHNAK2	113146	broad.mit.edu	37	14	105410925	105410925	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:105410925C>A	uc010axc.1	-	7	10983	c.10863G>T	c.(10861-10863)GAG>GAT	p.E3621D	AHNAK2_uc001ypx.2_Missense_Mutation_p.E3521D	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3621						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)			ACAGGTCTCCCTCCAGCCGCC	0.597													75	52					5.82419e-33	7.64939e-33	0.003610	1	0
AHNAK2	113146	broad.mit.edu	37	14	105411838	105411838	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:105411838G>A	uc010axc.1	-	7	10070	c.9950C>T	c.(9949-9951)TCG>TTG	p.S3317L	AHNAK2_uc001ypx.2_Missense_Mutation_p.S3217L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3317						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)			CGCCCTGTACGACGGCATCTT	0.617													125	72					0	0	0.003610	0	0
AHNAK2	113146	broad.mit.edu	37	14	105414017	105414017	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:105414017G>A	uc010axc.1	-	7	7891	c.7771C>T	c.(7771-7773)CCC>TCC	p.P2591S	AHNAK2_uc001ypx.2_Missense_Mutation_p.P2491S	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2591						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)			TCCAGCTTGGGGCCCTTGACA	0.617													47	118					0	0	0.003610	0	0
JAG2	3714	broad.mit.edu	37	14	105609069	105609069	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:105609069C>T	uc001yqg.2	-	26	4084	c.3680G>A	c.(3679-3681)AGG>AAG	p.R1227K	JAG2_uc010axf.2_Missense_Mutation_p.G51R|JAG2_uc001yqf.2_Missense_Mutation_p.R631K|JAG2_uc001yqh.2_Missense_Mutation_p.R1189K	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	jagged 2 isoform a precursor	1227	Cytoplasmic (Potential).				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			lung(3)|breast(2)	5		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		ATTGATGCTCCTGACCGCGCG	0.687													17	5					0	0	0.004990	0	0
ADAM6	8755	broad.mit.edu	37	14	106321919	106321919	+	RNA	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:106321919C>T	uc010tyt.1	-	3599		c.55477G>A			uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_Intron|uc001yse.2_Intron|uc001ysf.2_Intron|uc001ysj.2_Intron|uc001ysk.1_Intron|uc001ysl.1_Intron|uc001ysm.1_Intron|uc001ysn.1_Intron|uc001yso.1_Intron					Parts of antibodies, mostly variable regions.												0						GCTCGGCAATCACTGCAGTGA	0.682													23	9					0	0	0.002780	0	0
ADAM6	8755	broad.mit.edu	37	14	106452778	106452778	+	RNA	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:106452778T>A	uc010tyt.1	-	1975		c.37978A>T								Parts of antibodies, mostly variable regions.												0						CCCTGAAACTTCTGTGCATAG	0.562													86	50					0	0	0.003610	0	0
ADAM6	8755	broad.mit.edu	37	14	106518702	106518702	+	RNA	SNP	C	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:106518702C>A	uc010tyt.1	-	1630		c.32735G>T								Parts of antibodies, mostly variable regions.												0						TCACACTGGACACCTGCAAAC	0.522													28	49					7.41945e-09	9.66197e-09	0.005443	1	0
ADAM6	8755	broad.mit.edu	37	14	106631189	106631189	+	RNA	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:106631189C>T	uc010tyt.1	-	1075		c.25062G>A								Parts of antibodies, mostly variable regions.												0						ATCCCAACCACTATGCCCTTG	0.537													8	5					0	0	0.003080	0	0
ADAM6	8755	broad.mit.edu	37	14	106774206	106774206	+	RNA	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:106774206G>A	uc010tyt.1	-	430		c.15555C>T								Parts of antibodies, mostly variable regions.												0						TGTTGGTGTTGATCCATCCCA	0.507													5	11					0	0	0.000602	0	0
ADAM6	8755	broad.mit.edu	37	14	106791172	106791172	+	RNA	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:106791172T>A	uc010tyt.1	-	386		c.14446A>T								Parts of antibodies, mostly variable regions.												0						TCCAGCCCCTTGCCTGGAGCC	0.542													11	197					0	0	0.004007	0	0
ADAM6	8755	broad.mit.edu	37	14	107034826	107034826	+	RNA	SNP	C	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:107034826C>A	uc010tyt.1	-	154		c.7407G>T			uc001ysz.2_Missense_Mutation_p.G85V					Parts of antibodies, mostly variable regions.												0						GGTGACCTGGCCTTGGAAGGA	0.597													70	30					5.16434e-52	6.79032e-52	0.003610	1	0
ADAM6	8755	broad.mit.edu	37	14	107062360	107062360	+	RNA	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:107062360A>G	uc010tyt.1	-	131		c.6235T>C								Parts of antibodies, mostly variable regions.												0						GACAGCGCAGATGAGGGACAG	0.612													3	37					0	0	0.000602	0	0
ADAM6	8755	broad.mit.edu	37	14	107095291	107095291	+	RNA	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:107095291C>T	uc010tyt.1	-	101		c.4796G>A								Parts of antibodies, mostly variable regions.												0						CCAGTCCCTTCCCTGGGGGCT	0.562													13	36					0	0	0.001523	0	0
ADAM6	8755	broad.mit.edu	37	14	107099196	107099196	+	RNA	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:107099196G>A	uc010tyt.1	-	98		c.4526C>T								Parts of antibodies, mostly variable regions.												0						CAGAGACAGTGAATTCTGGGC	0.488													9	14					0	0	0.000978	0	0
ADAM6	8755	broad.mit.edu	37	14	107099305	107099305	+	Splice_Site	SNP	T	C	C	rs117541988	by1000genomes	TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:107099305T>C	uc010tyt.1	-	96		c.4457_splice	c.e96+1							Parts of antibodies, mostly variable regions.												0						AAACCCTTTCTTGGAGCCTGG	0.542													3	31					0	0	0.004672	0	0
ADAM6	8755	broad.mit.edu	37	14	107259410	107259410	+	RNA	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:107259410G>A	uc010tyt.1	-	9		c.556C>T			uc001yta.1_Missense_Mutation_p.S90L					Parts of antibodies, mostly variable regions.												0						GCTGTCGGCTGAGATGGTGAC	0.572													24	18					0	0	0.006320	0	0
LOC646214	646214	broad.mit.edu	37	15	21936793	21936793	+	RNA	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:21936793G>A	uc010tzj.1	-	1		c.3947C>T				NR_027053				Homo sapiens mRNA for p21-activated kinase 2 variant protein.												0						GCCCTCAAGGGATTTTCATTG	0.443													7	146					0	0	0.001984	0	0
LOC646214	646214	broad.mit.edu	37	15	21937437	21937437	+	RNA	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:21937437C>T	uc010tzj.1	-	1		c.3303G>A				NR_027053				Homo sapiens mRNA for p21-activated kinase 2 variant protein.												0						TTAGTTTCTCCATAATCTCTT	0.383													7	188					0	0	0.003080	0	0
OR4M2	390538	broad.mit.edu	37	15	22369027	22369027	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:22369027G>A	uc010tzu.1	+	1	452	c.452G>A	c.(451-453)GGG>GAG	p.G151E	LOC727924_uc001yua.2_RNA|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M,	151	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCCTGGAGGGGGGGCTTCATT	0.498													20	288					0	0	0.007413	0	0
OR4M2	390538	broad.mit.edu	37	15	22369378	22369378	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:22369378C>T	uc010tzu.1	+	1	803	c.803C>T	c.(802-804)TCC>TTC	p.S268F	LOC727924_uc001yua.2_Intron|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M,	268	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GACTCGTTTTCCCTAGATAAA	0.423													13	219					0	0	0.003163	0	0
OR4M2	390538	broad.mit.edu	37	15	22369509	22369509	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:22369509G>A	uc010tzu.1	+	1	934	c.934G>A	c.(934-936)GAG>AAG	p.E312K	LOC727924_uc001yua.2_Intron|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M,	312	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TTTGTGTAAAGAGAAGTGAAA	0.343													7	33					0	0	0.001984	0	0
GOLGA9P	283796	broad.mit.edu	37	15	23259509	23259509	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:23259509A>G	uc001yvh.1	+	5	661	c.119A>G	c.(118-120)AAC>AGC	p.N40S	uc001yvi.2_5'Flank	NR_024074				RecName: Full=Putative golgin subfamily A member 6-like protein 11;												0						AAGAAAGCAAACATCAAGAAA	0.517													7	3					0	0	0.003080	0	0
C15orf2	23742	broad.mit.edu	37	15	24921504	24921504	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:24921504G>A	uc001ywo.2	+	1	964	c.490G>A	c.(490-492)GAG>AAG	p.E164K		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	164					cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		GAAGAAGGATGAGGATCCGGT	0.622													5	23					0	0	0.000602	0	0
C15orf2	23742	broad.mit.edu	37	15	24921999	24921999	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:24921999A>T	uc001ywo.2	+	1	1459	c.985A>T	c.(985-987)AAA>TAA	p.K329*		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	329	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CTGCAAAAGGAAAATGTCGAT	0.582													6	30					0	0	0.001168	0	0
PAR4	347745	broad.mit.edu	37	15	25442661	25442661	+	Splice_Site	SNP	G	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:25442661G>T	uc001yzk.1	+	1		c.86_splice	c.e1+1		PAR4_uc010ayo.1_Splice_Site|SNORD115-16_uc001yzm.1_5'Flank					Homo sapiens clone Rt-13I SNURF-SNRPN mRNA, downstream untranslated exons, alternatively spliced.												0						CTGAGCTGTGGTGAGCACATC	0.567													8	51					0.000157383	0.000203527	0.003080	1	0
ATP10A	57194	broad.mit.edu	37	15	26026330	26026330	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:26026330G>A	uc010ayu.2	-	2	596	c.490C>T	c.(490-492)CAC>TAC	p.H164Y		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	164	Cytoplasmic (Potential).				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TCTCCCACGTGGATTTCTTTC	0.393													14	14					0	0	0.001855	0	0
GABRB3	2562	broad.mit.edu	37	15	26806324	26806324	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:26806324C>T	uc001zaz.2	-	8	978	c.836_splice	c.e8-1	p.G279_splice	GABRB3_uc010uae.1_Splice_Site_p.G194_splice|GABRB3_uc001zba.2_Splice_Site_p.G279_splice|GABRB3_uc001zbb.2_Splice_Site_p.G335_splice	NM_000814	NP_000805	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta						synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GTTGTGATCCCTAGAAAAGAA	0.428													34	60					0	0	0.004878	0	0
GABRB3	2562	broad.mit.edu	37	15	26866567	26866567	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:26866567G>A	uc001zaz.2	-	4	497	c.355C>T	c.(355-357)CCC>TCC	p.P119S	GABRB3_uc010uae.1_Missense_Mutation_p.P34S|GABRB3_uc001zba.2_Missense_Mutation_p.P119S|GABRB3_uc001zbb.2_Missense_Mutation_p.P175S|GABRB3_uc001zbc.2_RNA	NM_000814	NP_000805	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	119	Extracellular (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TATGTGTCGGGCACCCATAGC	0.458													15	61					0	0	0.003163	0	0
TJP1	7082	broad.mit.edu	37	15	30025367	30025367	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:30025367G>A	uc001zcr.2	-	13	2142	c.1667C>T	c.(1666-1668)TCT>TTT	p.S556F	TJP1_uc010azl.2_Missense_Mutation_p.S544F|TJP1_uc001zcq.2_Missense_Mutation_p.S560F|TJP1_uc001zcs.2_Missense_Mutation_p.S556F	NM_003257	NP_003248	Q07157	ZO1_HUMAN	tight junction protein 1 isoform a	556	SH3.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				ovary(4)|central_nervous_system(1)|pancreas(1)	6		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		AGCAAGCCAAGAGCCCAGTTT	0.398													34	53					0	0	0.004878	0	0
FMN1	342184	broad.mit.edu	37	15	33261033	33261033	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:33261033G>A	uc001zhf.3	-	4	2200	c.2200C>T	c.(2200-2202)CCT>TCT	p.P734S		NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	formin 1	957	FH1.|Pro-rich.				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)		AAGAGTCCAGGGGGAGGTGGG	0.517													11	44					0	0	0.008291	0	0
FMN1	342184	broad.mit.edu	37	15	33261035	33261035	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:33261035G>T	uc001zhf.3	-	4	2198	c.2198C>A	c.(2197-2199)CCC>CAC	p.P733H		NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	formin 1	956	FH1.|Pro-rich.				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)		GAGTCCAGGGGGAGGTGGGGG	0.517													12	41					6.40141e-05	8.28735e-05	0.000978	1	0
RYR3	6263	broad.mit.edu	37	15	33938583	33938583	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:33938583C>T	uc001zhi.2	+	29	3867	c.3797C>T	c.(3796-3798)CCT>CTT	p.P1266L	RYR3_uc010bar.2_Missense_Mutation_p.P1266L	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	1266	4 X approximate repeats.|B30.2/SPRY 3.|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)		ATGGACAGCCCTCCGTGTCTC	0.527													57	88					0	0	0.003610	0	0
RYR3	6263	broad.mit.edu	37	15	33941312	33941312	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:33941312C>T	uc001zhi.2	+	31	4088	c.4018C>T	c.(4018-4020)CCA>TCA	p.P1340S	RYR3_uc010bar.2_Missense_Mutation_p.P1340S	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	1340	4 X approximate repeats.|B30.2/SPRY 3.|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)		TGGACAGGATCCATCCTGTGT	0.537													28	59					0	0	0.002445	0	0
RYR3	6263	broad.mit.edu	37	15	34150115	34150115	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:34150115G>A	uc001zhi.2	+	99	14212	c.14142G>A	c.(14140-14142)ACG>ACA	p.T4714T	RYR3_uc010bar.2_Silent_p.T4709T	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	4714	Helical; Name=M9; (Potential).				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)		ACATGATGACGGTGAGAGCCC	0.577													5	5					0	0	0.001168	0	0
SLC12A6	9990	broad.mit.edu	37	15	34528243	34528243	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:34528243C>T	uc001zhw.2	-	23	3364	c.3200G>A	c.(3199-3201)GGA>GAA	p.G1067E	SLC12A6_uc001zhv.2_Missense_Mutation_p.G1016E|SLC12A6_uc001zhx.2_Missense_Mutation_p.G1052E|SLC12A6_uc001zhy.2_RNA|SLC12A6_uc001zhz.2_RNA|SLC12A6_uc001zia.2_Missense_Mutation_p.G1008E|SLC12A6_uc001zib.2_Missense_Mutation_p.G1058E|SLC12A6_uc001zic.2_Missense_Mutation_p.G1067E|SLC12A6_uc010bau.2_Missense_Mutation_p.G1067E|SLC12A6_uc001zid.2_Missense_Mutation_p.G1008E|SLC12A6_uc001zht.2_RNA|SLC12A6_uc001zhu.2_Missense_Mutation_p.G879E	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	solute carrier family 12, member 6 isoform a	1067	Cytoplasmic (Potential).				angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|ovary(1)|skin(1)	7		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	GTCCTGGAATCCTTCCATTGA	0.458													17	80					0	0	0.001523	0	0
GJD2	57369	broad.mit.edu	37	15	35046624	35046624	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:35046624G>A	uc001zis.1	-	1	66	c.66C>T	c.(64-66)ATC>ATT	p.I22I	uc001zit.1_5'Flank	NM_020660	NP_065711	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	22	Helical; (Potential).				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity				0		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		CTTACCTCCCGATCATAGTGG	0.662													9	18					0	0	0.008291	0	0
AQR	9716	broad.mit.edu	37	15	35166930	35166930	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:35166930G>A	uc001ziv.2	-	29	3554	c.3373C>T	c.(3373-3375)CGC>TGC	p.R1125C		NM_014691	NP_055506	O60306	AQR_HUMAN	aquarius	1125						catalytic step 2 spliceosome	RNA binding			large_intestine(1)	1		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		ACTCCAACGCGAACAAAGCGA	0.428													10	52					0	0	0.006214	0	0
MEIS2	4212	broad.mit.edu	37	15	37242593	37242593	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:37242593G>A	uc001zjr.2	-	9	1946	c.909C>T	c.(907-909)TAC>TAT	p.Y303Y	MEIS2_uc001zjl.2_Silent_p.Y290Y|MEIS2_uc010ucj.1_Silent_p.Y290Y|MEIS2_uc001zjm.2_Silent_p.Y215Y|MEIS2_uc001zjn.2_Silent_p.Y157Y|MEIS2_uc001zjo.2_Silent_p.Y303Y|MEIS2_uc001zjp.2_Silent_p.Y303Y|MEIS2_uc001zjs.2_Silent_p.Y303Y|MEIS2_uc001zju.2_Silent_p.Y290Y|MEIS2_uc001zjt.2_Silent_p.Y303Y	NM_170675	NP_733775	O14770	MEIS2_HUMAN	Meis homeobox 2 isoform c	303	Homeobox; TALE-type.				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(2)	2		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		CTTCGGAAGGGTACGGATGCT	0.383													30	83					0	0	0.002096	0	0
TMCO5A	145942	broad.mit.edu	37	15	38243296	38243296	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:38243296T>G	uc001zjw.2	+	11	831	c.728T>G	c.(727-729)TTT>TGT	p.F243C	TMCO5A_uc001zjv.1_Intron	NM_152453	NP_689666	Q8N6Q1	TMC5A_HUMAN	transmembrane and coiled-coil domains 5A	243	Helical; (Potential).					integral to membrane				central_nervous_system(1)	1						AGCTACATGTTTTTTCATGTA	0.408													12	73					0	0	0.000978	0	0
THBS1	7057	broad.mit.edu	37	15	39874629	39874629	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:39874629G>A	uc001zkh.2	+	3	482	c.303G>A	c.(301-303)CGG>CGA	p.R101R		NM_003246	NP_003237	P07996	TSP1_HUMAN	thrombospondin 1 precursor	101	TSP N-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			ovary(3)|central_nervous_system(3)	6		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	AGAAGACCCGGGGCACGCTGC	0.622													7	10					0	0	0.006214	0	0
FSIP1	161835	broad.mit.edu	37	15	40005724	40005724	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:40005724C>T	uc001zki.2	-	10	1327	c.1109G>A	c.(1108-1110)AGG>AAG	p.R370K		NM_152597	NP_689810	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	370										ovary(2)|skin(1)	3		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		TTTGGTGTTCCTAAGTATCTT	0.353													55	110					0	0	0.003610	0	0
C15orf23	90417	broad.mit.edu	37	15	40675131	40675131	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:40675131G>A	uc001zll.2	+	1	210	c.95G>A	c.(94-96)CGG>CAG	p.R32Q	C15orf23_uc010ucp.1_Missense_Mutation_p.R32Q|C15orf23_uc001zlo.2_Missense_Mutation_p.R32Q|C15orf23_uc001zlm.2_RNA|C15orf23_uc001zln.2_RNA	NM_033286	NP_150628	Q9Y448	T4AF1_HUMAN	TRAF4 associated factor 1 isoform a	32						nucleus	protein binding			ovary(1)|skin(1)	2		all_cancers(109;2.34e-14)|all_epithelial(112;9.21e-12)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.39e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0798)		CCTAGCTACCGGAAGTTTCTA	0.572													36	46					0	0	0.006230	0	0
CASC5	57082	broad.mit.edu	37	15	40913706	40913706	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:40913706C>T	uc010bbs.1	+	11	1483	c.1322C>T	c.(1321-1323)TCT>TTT	p.S441F	CASC5_uc010ucq.1_Missense_Mutation_p.S265F|CASC5_uc001zme.2_Missense_Mutation_p.S415F|CASC5_uc010bbt.1_Missense_Mutation_p.S415F	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5 isoform 1	441	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)		ACCCCAGAATCTATATATTCT	0.358													20	112					0	0	0.002299	0	0
RPAP1	26015	broad.mit.edu	37	15	41819424	41819424	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:41819424G>A	uc001zod.2	-	13	1811	c.1687C>T	c.(1687-1689)CTT>TTT	p.L563F		NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	563						nucleus	DNA binding|DNA-directed RNA polymerase activity			large_intestine(1)	1		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		AGGATGTCAAGGACCACCGCA	0.607													8	41					0	0	0.006214	0	0
TYRO3	7301	broad.mit.edu	37	15	41859680	41859680	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:41859680T>G	uc001zof.1	+	7	1130	c.906T>G	c.(904-906)AAT>AAG	p.N302K		NM_006293	NP_006284	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase precursor	302	Fibronectin type-III 1.|Extracellular (Potential).					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			ovary(3)|lung(2)|central_nervous_system(1)	6		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GCTGTGCCAATGCCTTGGGGC	0.642													19	66					0	0	0.001523	0	0
EHD4	30844	broad.mit.edu	37	15	42245963	42245963	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:42245963G>A	uc001zot.2	-	2	475	c.412C>T	c.(412-414)CGA>TGA	p.R138*	EHD4_uc001zou.2_Nonsense_Mutation_p.R138*	NM_139265	NP_644670	Q9H223	EHD4_HUMAN	EH-domain containing 4	138					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)		GGTCCTTACCGATTCAGGAAA	0.458													30	63					0	0	0.003271	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42438008	42438008	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:42438008C>T	uc001zoz.2	-	15	1691	c.1628G>A	c.(1627-1629)CGA>CAA	p.R543Q	PLA2G4F_uc010bcq.2_5'Flank|PLA2G4F_uc001zoy.2_Missense_Mutation_p.R175Q|PLA2G4F_uc010bcr.2_Missense_Mutation_p.R294Q|PLA2G4F_uc001zpa.2_Missense_Mutation_p.R294Q|PLA2G4F_uc010bcs.2_Missense_Mutation_p.R330Q	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	543	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			ovary(4)	4		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		CTGCAGCAATCGTCCCATGAA	0.622													12	34					0	0	0.001368	0	0
ZFP106	64397	broad.mit.edu	37	15	42743513	42743513	+	Silent	SNP	A	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:42743513A>C	uc001zpw.2	-	2	1223	c.888T>G	c.(886-888)GGT>GGG	p.G296G	ZFP106_uc001zpu.2_5'Flank|ZFP106_uc001zpv.2_Intron|ZFP106_uc001zpx.2_Intron|ZFP106_uc010udh.1_Silent_p.G79G|ZFP106_uc001zpy.1_Silent_p.G319G	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	zinc finger protein 106 homolog	296						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)		CTTCAGAAGGACCTCTATATG	0.393													6	62					0	0	0.003080	0	0
TTBK2	146057	broad.mit.edu	37	15	43045325	43045325	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:43045325G>A	uc001zqo.2	-	14	2558	c.2119C>T	c.(2119-2121)CCA>TCA	p.P707S	TTBK2_uc010bcy.2_Missense_Mutation_p.P638S	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	707					cell death		ATP binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|stomach(1)|pancreas(1)|skin(1)	7		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TTTTCCCTTGGAGAGTAAAGT	0.488													10	88					0	0	0.006214	0	0
UBR1	197131	broad.mit.edu	37	15	43318759	43318759	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:43318759C>T	uc001zqq.2	-	23	2601	c.2535G>A	c.(2533-2535)AAG>AAA	p.K845K	UBR1_uc010udk.1_Silent_p.K845K	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin	845					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			lung(1)	1		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		TTTTTTCTACCTTGCTATGCT	0.338													13	81					0	0	0.001368	0	0
ZSCAN29	146050	broad.mit.edu	37	15	43653936	43653936	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:43653936C>T	uc001zrk.1	-	5	2041	c.1894G>A	c.(1894-1896)GAG>AAG	p.E632K	ZSCAN29_uc001zrj.1_Missense_Mutation_p.E512K|ZSCAN29_uc010bdf.1_3'UTR|ZSCAN29_uc001zrl.1_RNA|ZSCAN29_uc010bdg.1_Missense_Mutation_p.E242K	NM_152455	NP_689668	Q8IWY8	ZSC29_HUMAN	zinc finger protein 690	632					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		AAGCTCTTCTCCGGGAGTGTC	0.463													49	98					0	0	0.003610	0	0
MAP1A	4130	broad.mit.edu	37	15	43815394	43815394	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:43815394G>A	uc001zrt.2	+	4	2190	c.1723G>A	c.(1723-1725)GGA>AGA	p.G575R		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	575						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)	AGCTATCCAGGGAACACCACC	0.547													7	19					0	0	0.003080	0	0
MAP1A	4130	broad.mit.edu	37	15	43819762	43819763	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:43819762_43819763CC>TT	uc001zrt.2	+	4	6558_6559	c.6091_6092CC>TT	c.(6091-6093)CCA>TTA	p.P2031L		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2031						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)	GTCTGACACTCCAACCTTCAGC	0.609													6	45					0	0	0.004672	0	0
CASC4	113201	broad.mit.edu	37	15	44673061	44673061	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:44673061C>T	uc001zto.1	+	8	1258	c.959C>T	c.(958-960)CCT>CTT	p.P320L	CASC4_uc001ztp.2_Missense_Mutation_p.P320L|CASC4_uc001ztq.2_Missense_Mutation_p.P320L	NM_138423	NP_612432	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4 isoform a	320	Lumenal (Potential).					integral to membrane				ovary(1)	1		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		CCTTCCAGTCCTCTTCAGCGT	0.368													11	29					0	0	0.001368	0	0
DUOX1	53905	broad.mit.edu	37	15	45426452	45426452	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:45426452G>A	uc001zus.1	+	5	598	c.252G>A	c.(250-252)AGG>AGA	p.R84R	DUOX1_uc001zut.1_Silent_p.R84R|DUOX1_uc010bee.1_5'UTR	NM_017434	NP_059130	Q9NRD9	DUOX1_HUMAN	dual oxidase 1 precursor	84	Peroxidase-like; mediates peroxidase activity.|Extracellular (Potential).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			ovary(5)|skin(2)|breast(1)	8		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CCATCTCAAGGGGCCCTGCAG	0.627													4	23					0	0	0.000248	0	0
FBN1	2200	broad.mit.edu	37	15	48741067	48741067	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:48741067G>C	uc001zwx.1	-	46	5897	c.5569C>G	c.(5569-5571)CCC>GCC	p.P1857A	FBN1_uc010beo.1_RNA	NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	1857	EGF-like 31; calcium-binding.				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			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CATATATTGGGGATTTCTTGA	0.348													9	31					0	0	0.004482	0	0
COPS2	9318	broad.mit.edu	37	15	49447856	49447856	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:49447856C>T	uc001zxf.2	-	1	1	c.-78_splice	c.e1-1		GALK2_uc001zxi.1_5'Flank|COPS2_uc001zxh.2_Splice_Site|COPS2_uc010ufa.1_Splice_Site	NM_004236	NP_004227	P61201	CSN2_HUMAN	COP9 constitutive photomorphogenic homolog						cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity			lung(1)	1		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		CTCTCAGCTTCTTTCCGCCTT	0.542													4	6					0	0	0.000248	0	0
ATP8B4	79895	broad.mit.edu	37	15	50264849	50264849	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:50264849G>A	uc001zxu.2	-	13	1315	c.1173C>T	c.(1171-1173)TCC>TCT	p.S391S	ATP8B4_uc010ber.2_Silent_p.S264S|ATP8B4_uc010ufd.1_Silent_p.S264S|ATP8B4_uc010ufe.1_RNA	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	ATPase class I type 8B member 4	391	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			skin(3)|ovary(2)|breast(2)|large_intestine(1)	8		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CCGTTTTGTCGGAGAAAATGT	0.433													13	30					0	0	0.004007	0	0
CYP19A1	1588	broad.mit.edu	37	15	51504559	51504559	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:51504559G>A	uc001zyz.3	-	10	1472	c.1221C>T	c.(1219-1221)TTC>TTT	p.F407F	CYP19A1_uc001zza.3_Silent_p.F407F|CYP19A1_uc001zzb.2_Silent_p.F407F	NM_031226	NP_112503	P11511	CP19A_HUMAN	cytochrome P450, family 19	407					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			skin(3)	3				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	TGGGTTTGGGGAAAAACTCGA	0.393													21	71					0	0	0.008871	0	0
SCG3	29106	broad.mit.edu	37	15	51984448	51984448	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:51984448G>A	uc002abh.2	+	7	1191	c.783G>A	c.(781-783)AGG>AGA	p.R261R	SCG3_uc010ufz.1_Silent_p.R29R	NM_013243	NP_037375	Q8WXD2	SCG3_HUMAN	secretogranin III isoform 1 precursor	261					platelet activation|platelet degranulation	extracellular region|stored secretory granule				ovary(1)	1				all cancers(107;0.00488)		GCTTGGAAAGGAGAACTAAAA	0.403													29	59					0	0	0.005443	0	0
KIAA1370	56204	broad.mit.edu	37	15	52905952	52905952	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:52905952C>T	uc002acg.3	-	3	272	c.119G>A	c.(118-120)CGA>CAA	p.R40Q	KIAA1370_uc002ach.3_RNA|KIAA1370_uc010bfg.1_Intron|KIAA1370_uc010ugf.1_Missense_Mutation_p.R47Q	NM_019600	NP_062546	Q32MH5	K1370_HUMAN	hypothetical protein LOC56204	40											0				all cancers(107;0.0803)		GCTTTCTGTTCGACCTTTTAC	0.433													6	21					0	0	0.001168	0	0
SLTM	79811	broad.mit.edu	37	15	59180636	59180636	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:59180636C>T	uc002afp.2	-	17	2411	c.2323G>A	c.(2323-2325)GAG>AAG	p.E775K	SLTM_uc002afn.2_Missense_Mutation_p.E317K|SLTM_uc002afo.2_Missense_Mutation_p.E757K|SLTM_uc002afq.2_Missense_Mutation_p.E344K|SLTM_uc010bgd.2_Missense_Mutation_p.E344K	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN	modulator of estrogen induced transcription	775	Arg/Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)	1						CTGCCCCTCTCTCGGTGATCA	0.403													41	39					0	0	0.003610	0	0
GCNT3	9245	broad.mit.edu	37	15	59910957	59910957	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:59910957G>A	uc002age.2	+	3	969	c.520G>A	c.(520-522)GAG>AAG	p.E174K	GCNT3_uc002agd.2_Missense_Mutation_p.E174K	NM_004751	NP_004742	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin	174	Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			ovary(1)|central_nervous_system(1)	2						AACTTTCAAAGAGGCGGTCAA	0.468													30	49					0	0	0.001786	0	0
GCNT3	9245	broad.mit.edu	37	15	59911232	59911232	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:59911232G>A	uc002age.2	+	3	1244	c.795G>A	c.(793-795)TGG>TGA	p.W265*	GCNT3_uc002agd.2_Nonsense_Mutation_p.W265*	NM_004751	NP_004742	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin	265	Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			ovary(1)|central_nervous_system(1)	2						AAACCCGCTGGAAATATCACT	0.433													66	135					0	0	0.003610	0	0
TPM1	7168	broad.mit.edu	37	15	63356339	63356339	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:63356339C>T	uc002alg.2	+	9	1040	c.849C>T	c.(847-849)TCC>TCT	p.S283S	TPM1_uc002alh.2_Silent_p.S283S|TPM1_uc010bgn.2_Intron|TPM1_uc002ali.2_Intron|TPM1_uc002alj.2_Intron|TPM1_uc002alk.2_Intron|TPM1_uc002all.2_Intron|TPM1_uc002alm.2_Intron|TPM1_uc010uie.1_Silent_p.S283S|TPM1_uc002alp.2_Silent_p.S283S|TPM1_uc002alr.2_Intron|TPM1_uc002als.2_Intron|TPM1_uc010uig.1_Intron|TPM1_uc002alt.2_Intron|TPM1_uc010bgp.2_Intron	NM_001018005	NP_001018005	P09493	TPM1_HUMAN	tropomyosin 1 alpha chain isoform 1	283	By similarity.				cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing	bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber	actin binding|structural constituent of cytoskeleton|structural constituent of muscle				0						ATATGACTTCCATGTAAACGT	0.498													5	16					0	0	0.000602	0	0
MAP2K1	5604	broad.mit.edu	37	15	66729162	66729162	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:66729162C>T	uc010bhq.2	+	3	845	c.370C>T	c.(370-372)CCG>TCG	p.P124S	MAP2K1_uc010ujp.1_Missense_Mutation_p.P102S	NM_002755	NP_002746	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	124	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|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|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity				0						GTGCAACTCTCCGTACATCGT	0.507									Cardiofaciocutaneous_syndrome				13	37					0	0	0.001855	0	0
LCTL	197021	broad.mit.edu	37	15	66845568	66845568	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:66845568C>T	uc002aqc.2	-	9	1083	c.951G>A	c.(949-951)GAG>GAA	p.E317E	LCTL_uc002aqd.3_Silent_p.E144E|LCTL_uc010bhw.2_Silent_p.E15E	NM_207338	NP_997221	Q6UWM7	LCTL_HUMAN	lactase-like precursor	317	Extracellular (Potential).				carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(2)	2						ACCTCGACATCTCCAGGCCTT	0.428													28	129					0	0	0.001786	0	0
TLE3	7090	broad.mit.edu	37	15	70342442	70342442	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:70342442G>A	uc002asm.2	-	20	3432	c.2313C>T	c.(2311-2313)ATC>ATT	p.I771I	TLE3_uc002ask.2_Silent_p.I698I|TLE3_uc002asl.2_Silent_p.I771I|TLE3_uc010ukd.1_Silent_p.I761I|TLE3_uc010bik.1_Silent_p.I352I|TLE3_uc010bil.1_Silent_p.I768I|TLE3_uc002asn.2_Silent_p.I759I|TLE3_uc002asp.2_Silent_p.I763I|TLE3_uc002aso.2_Silent_p.I766I	NM_005078	NP_005069	Q04726	TLE3_HUMAN	transducin-like enhancer protein 3 isoform a	771	WD 7.				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|protein binding			lung(2)	2						TTGTTTAGTAGATGACCTCAT	0.527													34	57					0	0	0.003755	0	0
BBS4	585	broad.mit.edu	37	15	73029894	73029894	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:73029894C>T	uc002avb.2	+	16	1569	c.1526C>T	c.(1525-1527)CCA>CTA	p.P509L	BBS4_uc010ukv.1_Missense_Mutation_p.P497L|BBS4_uc002avc.2_Missense_Mutation_p.P337L|BBS4_uc002avd.2_Missense_Mutation_p.P517L	NM_033028	NP_149017	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	509	Required for localization to centrosomes.				adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity				0						GAATCAAGTCCAACTGAAACA	0.433									Bardet-Biedl_syndrome				4	15					0	0	0.000602	0	0
NEO1	4756	broad.mit.edu	37	15	73528761	73528761	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:73528761C>T	uc002avm.3	+	8	1507	c.1365C>T	c.(1363-1365)ATC>ATT	p.I455I	NEO1_uc010ukx.1_Silent_p.I455I|NEO1_uc010uky.1_Silent_p.I455I|NEO1_uc010ukz.1_5'UTR|NEO1_uc002avn.3_Silent_p.I120I	NM_002499	NP_002490	Q92859	NEO1_HUMAN	neogenin homolog 1 precursor	455	Extracellular (Potential).|Fibronectin type-III 1.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				pancreas(1)	1						CCCGCTTCATCAAATTGACGT	0.552													9	62					0	0	0.004482	0	0
CYP1A2	1544	broad.mit.edu	37	15	75042853	75042853	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:75042853G>A	uc002ayr.1	+	2	838	c.774G>A	c.(772-774)CAG>CAA	p.Q258Q		NM_000761	NP_000752	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A,	258					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			ovary(3)|breast(1)	4					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	CCTTCAACCAGAGGTTCCTGT	0.597													19	32					0	0	0.002780	0	0
CYP1A2	1544	broad.mit.edu	37	15	75045535	75045535	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:75045535G>A	uc002ayr.1	+	6	1241	c.1177G>A	c.(1177-1179)GAC>AAC	p.D393N		NM_000761	NP_000752	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A,	393					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			ovary(3)|breast(1)	4					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	CACAACAAGGGACACAACGCT	0.557													8	13					0	0	0.004482	0	0
SCAMP5	192683	broad.mit.edu	37	15	75309020	75309020	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:75309020T>A	uc002azk.1	+	4	385	c.223T>A	c.(223-225)TTT>ATT	p.F75I	SCAMP5_uc002azl.1_Missense_Mutation_p.F75I|SCAMP5_uc002azm.1_Missense_Mutation_p.F75I|SCAMP5_uc002azn.1_Missense_Mutation_p.F75I|SCAMP5_uc010uly.1_Intron	NM_138967	NP_620417	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	75	Helical; (Potential).				exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			ovary(1)	1						TGGCCTCGCCTTTCTCTGGCT	0.602													28	38					0	0	0.007291	0	0
C15orf27	123591	broad.mit.edu	37	15	76430138	76430138	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:76430138G>A	uc002bbq.2	+	3	284	c.129G>A	c.(127-129)GTG>GTA	p.V43V	C15orf27_uc010bkp.2_5'UTR|C15orf27_uc002bbr.2_5'UTR	NM_152335	NP_689548	Q2M3C6	CO027_HUMAN	hypothetical protein LOC123591	43						integral to membrane					0						TGCAGCTGGTGAACTTTGCCT	0.527													31	46					0	0	0.002096	0	0
SGK269	79834	broad.mit.edu	37	15	77425472	77425472	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:77425472G>A	uc002bcm.2	-	5	4260	c.3952C>T	c.(3952-3954)CGT>TGT	p.R1318C		NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	NKF3 kinase family member	1318	Protein kinase.				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding				0				STAD - Stomach adenocarcinoma(199;0.124)		ACTCCAAAACGGAGCTGGTCT	0.468													32	48					0	0	0.002836	0	0
LOC645752	645752	broad.mit.edu	37	15	78211648	78211648	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:78211648A>G	uc010bky.2	-	11	883	c.119T>C	c.(118-120)CTA>CCA	p.L40P		NR_027024				SubName: Full=GOLGA6 protein; Flags: Fragment;												0						CGCCAGGGATAGGGGCTCAGC	0.522													3	44					0	0	0.004672	0	0
TBC1D2B	23102	broad.mit.edu	37	15	78295821	78295821	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:78295821C>T	uc002bcy.3	-	11	2400	c.2400G>A	c.(2398-2400)CGG>CGA	p.R800R	TBC1D2B_uc010bla.2_Silent_p.R800R|TBC1D2B_uc002bda.2_Silent_p.R252R	NM_144572	NP_653173	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B isoform a	800	Rab-GAP TBC.					intracellular	protein binding|Rab GTPase activator activity			ovary(1)|large_intestine(1)|breast(1)	3						CTCTGAACACCCGCTGGTCCA	0.552													9	14					0	0	0.004482	0	0
AGPHD1	123688	broad.mit.edu	37	15	78807359	78807360	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:78807359_78807360CC>TT	uc010unc.1	+	3	500_501	c.387_388CC>TT	c.(385-390)CTCCCA>CTTTCA	p.P130S	AGPHD1_uc002bdt.2_Missense_Mutation_p.P130S|AGPHD1_uc010ble.2_Missense_Mutation_p.P130S	NM_001013619	NP_001013641	A2RU49	AGPD1_HUMAN	aminoglycoside phosphotransferase domain	130						cytoplasm	kinase activity				0						TGACTTACCTCCCAGGAAGACC	0.401													13	28					0	0	0.004672	0	0
CHRNB4	1143	broad.mit.edu	37	15	78923522	78923522	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:78923522C>T	uc002bed.1	-	4	367	c.255G>A	c.(253-255)TGG>TGA	p.W85*	CHRNB4_uc002bee.1_Nonsense_Mutation_p.W85*|CHRNB4_uc010blh.1_5'UTR	NM_000750	NP_000741	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4	85	Extracellular (Potential).				regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0						GGTAATCAGTCCATTCCTGGA	0.572													14	40					0	0	0.003163	0	0
RASGRF1	5923	broad.mit.edu	37	15	79290502	79290502	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:79290502C>T	uc002beq.2	-	20	3325	c.2950G>A	c.(2950-2952)GAA>AAA	p.E984K	RASGRF1_uc002bep.2_Missense_Mutation_p.E968K|RASGRF1_uc010blm.1_Missense_Mutation_p.E893K|RASGRF1_uc002ber.3_Missense_Mutation_p.E968K|RASGRF1_uc010unh.1_Missense_Mutation_p.E379K|RASGRF1_uc002beo.2_Missense_Mutation_p.E200K	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Ras protein-specific guanine	986					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			skin(4)|ovary(1)|central_nervous_system(1)	6						ATGACTTCTTCCAGGAAGCCG	0.557													18	63					0	0	0.002299	0	0
AP3B2	8120	broad.mit.edu	37	15	83334278	83334278	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:83334278C>T	uc010uoh.1	-	16	2079	c.1902G>A	c.(1900-1902)AAG>AAA	p.K634K	AP3B2_uc010uoi.1_Silent_p.K634K|AP3B2_uc010uoj.1_Silent_p.K602K|AP3B2_uc010bmp.2_5'Flank|AP3B2_uc010uog.1_Silent_p.K270K|AP3B2_uc002biy.1_5'Flank	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2	634					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			ovary(3)|breast(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.229)			AGCCTGTGGCCTTGGCATTAA	0.582													19	81					0	0	0.002299	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84561589	84561589	+	Silent	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:84561589A>G	uc002bjz.3	+	13	1640	c.1416A>G	c.(1414-1416)CAA>CAG	p.Q472Q	ADAMTSL3_uc010bmt.1_Silent_p.Q472Q|ADAMTSL3_uc010bmu.1_Silent_p.Q472Q	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	472						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)			AGGTTATGCAAACTTGTAATC	0.423													17	32					0	0	0.007413	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84561591	84561591	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:84561591C>G	uc002bjz.3	+	13	1642	c.1418C>G	c.(1417-1419)ACT>AGT	p.T473S	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.T473S|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.T473S	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	473						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)			GTTATGCAAACTTGTAATCTG	0.418													18	33					0	0	0.002299	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84651759	84651759	+	Missense_Mutation	SNP	G	A	A	rs147808860		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:84651759G>A	uc002bjz.3	+	21	3603	c.3379G>A	c.(3379-3381)GAA>AAA	p.E1127K	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.E1127K|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.E1127K	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	1127						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)			GCTGGTGGCCGAATTAGCCAA	0.547													8	20					0	0	0.006214	0	0
AKAP13	11214	broad.mit.edu	37	15	86278326	86278327	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:86278326_86278327CC>TT	uc002blv.1	+	31	7556_7557	c.7386_7387CC>TT	c.(7384-7389)CCCCGG>CCTTGG	p.R2463W	AKAP13_uc002blu.1_Missense_Mutation_p.R2467W|AKAP13_uc002blw.1_Missense_Mutation_p.R928W|AKAP13_uc002blx.1_Missense_Mutation_p.R708W	NM_007200	NP_009131	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 2	2463	Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						TTTCCCTGCCCCGGAGAGCAGA	0.5													48	100					0	0	0.004672	0	0
ACAN	176	broad.mit.edu	37	15	89382250	89382250	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:89382250G>A	uc010upo.1	+	3	801	c.427G>A	c.(427-429)GAG>AAG	p.E143K	ACAN_uc002bmx.2_Missense_Mutation_p.E143K|ACAN_uc010upp.1_Missense_Mutation_p.E143K|ACAN_uc002bna.2_RNA	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	aggrecan isoform 2 precursor	143					cell adhesion		hyaluronic acid binding|sugar binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CGAGGACAGCGAGGCCACCCT	0.622													26	46					0	0	0.007291	0	0
ACAN	176	broad.mit.edu	37	15	89398540	89398540	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:89398540G>A	uc010upo.1	+	12	3098	c.2724G>A	c.(2722-2724)GTG>GTA	p.V908V	ACAN_uc010upp.1_Silent_p.V908V|ACAN_uc002bna.2_RNA	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	aggrecan isoform 2 precursor	908					cell adhesion		hyaluronic acid binding|sugar binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CTTCCACAGTGGGCTCAGGCC	0.577													10	19					0	0	0.006214	0	0
ACAN	176	broad.mit.edu	37	15	89400745	89400745	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:89400745C>T	uc010upo.1	+	12	5303	c.4929C>T	c.(4927-4929)CCC>CCT	p.P1643P	ACAN_uc010upp.1_Silent_p.P1643P|ACAN_uc002bna.2_RNA	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	aggrecan isoform 2 precursor	1643					cell adhesion		hyaluronic acid binding|sugar binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GTGGCCCACCCTCTGGCCTGC	0.522													28	80					0	0	0.008361	0	0
WDR93	56964	broad.mit.edu	37	15	90280894	90280894	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:90280894C>T	uc002boj.2	+	15	1800	c.1699C>T	c.(1699-1701)CCT>TCT	p.P567S	WDR93_uc010bnr.2_Missense_Mutation_p.P539S|WDR93_uc010upz.1_Missense_Mutation_p.P284S	NM_020212	NP_064597	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	567					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			ovary(2)	2	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			GGGAGCCTTTCCTCTGGAGGT	0.557													5	53					0	0	0.001168	0	0
ANPEP	290	broad.mit.edu	37	15	90348431	90348431	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:90348431G>A	uc002bop.3	-	4	1067	c.775C>T	c.(775-777)CCA>TCA	p.P259S		NM_001150	NP_001141	P15144	AMPN_HUMAN	membrane alanine aminopeptidase precursor	259	Extracellular.|Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			ovary(3)|skin(1)	4	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	GGGTCTTCTGGAAGTGGGGTG	0.612													13	88					0	0	0.002450	0	0
CRTC3	64784	broad.mit.edu	37	15	91181686	91181686	+	Silent	SNP	C	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:91181686C>A	uc002bpp.2	+	12	1381	c.1275C>A	c.(1273-1275)TCC>TCA	p.S425S	CRTC3_uc002bpo.2_Silent_p.S425S	NM_022769	NP_073606	Q6UUV7	CRTC3_HUMAN	transducer of regulated CREB protein 3 isoform	425					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	salivary_gland(26)|ovary(1)	27	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			AGATGGTGTCCTCAGACCGAA	0.547			T	MAML2	salivary gland mucoepidermoid								13	23					2.32078e-09	3.02335e-09	0.003163	1	0
SLCO3A1	28232	broad.mit.edu	37	15	92459569	92459569	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:92459569T>A	uc002bqx.2	+	2	728	c.527T>A	c.(526-528)ATG>AAG	p.M176K	SLCO3A1_uc002bqy.2_Missense_Mutation_p.M176K|SLCO3A1_uc010boc.1_RNA|SLCO3A1_uc002bqz.1_Missense_Mutation_p.M118K	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family,	176	Helical; Name=4; (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			skin(1)	1	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			ACCAACATGATGTACTTGCTG	0.692													3	16					0	0	0.000248	0	0
MCTP2	55784	broad.mit.edu	37	15	94910937	94910937	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:94910937C>T	uc002btj.2	+	10	1470	c.1405C>T	c.(1405-1407)CCC>TCC	p.P469S	MCTP2_uc002bti.2_Missense_Mutation_p.P469S|MCTP2_uc010boj.2_Missense_Mutation_p.P198S|MCTP2_uc010bok.2_Missense_Mutation_p.P469S|MCTP2_uc002btk.3_Missense_Mutation_p.P57S|MCTP2_uc002btl.2_Missense_Mutation_p.P57S	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2 isoform 1	469					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			ovary(1)|pancreas(1)|skin(1)	3	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			CACACTTACACCCTGTGCGGG	0.532													11	52					0	0	0.000978	0	0
Unknown	0	broad.mit.edu	37	15	102291902	102291902	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:102291902C>T	uc010usj.1	+	3	269	c.210C>T	c.(208-210)ACC>ACT	p.T70T	uc002bxp.3_5'Flank|uc002bxt.2_5'Flank|uc002bxz.3_5'Flank|uc002byd.2_5'Flank|uc002bye.2_5'Flank					RecName: Full=Uncharacterized protein C15orf51.; Flags: Fragment;																		AGCCCAAGACCATCATGCACA	0.577													14	17					0	0	0.003163	0	0
PIGQ	9091	broad.mit.edu	37	16	624338	624338	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:624338C>T	uc002cho.2	+	2	366	c.264C>T	c.(262-264)TTC>TTT	p.F88F	PIGQ_uc010bqw.2_Silent_p.F88F|PIGQ_uc002chm.2_Silent_p.F88F|PIGQ_uc002chn.2_Silent_p.F88F|PIGQ_uc010uui.1_Silent_p.F102F	NM_148920	NP_683721	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	88					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)	1		Hepatocellular(780;0.00335)				GTGCTGTCTTCCCCCATGAGC	0.736													7	17					0	0	0.003080	0	0
WDR90	197335	broad.mit.edu	37	16	705375	705375	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:705375C>T	uc002cii.1	+	15	1679	c.1625C>T	c.(1624-1626)CCC>CTC	p.P542L	WDR90_uc002cig.1_Missense_Mutation_p.P542L|WDR90_uc002cih.1_Missense_Mutation_p.P543L|WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Missense_Mutation_p.P69L|WDR90_uc002cil.1_5'Flank|WDR90_uc002cim.1_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	WD repeat domain 90	542										ovary(1)	1		Hepatocellular(780;0.0218)				CGTTCCTGCCCCGTGGACTTA	0.697													3	11					0	0	0.000248	0	0
MSLN	10232	broad.mit.edu	37	16	817004	817004	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:817004C>T	uc002cjw.1	+	14	1568	c.1517C>T	c.(1516-1518)TCC>TTC	p.S506F	MSLN_uc002cjt.1_Missense_Mutation_p.S498F|MSLN_uc002cju.1_Missense_Mutation_p.S498F|MSLN_uc010brd.1_Missense_Mutation_p.S497F|MSLN_uc002cjv.1_Missense_Mutation_p.S498F|MSLN_uc002cjx.1_Missense_Mutation_p.S498F|MSLN_uc002cjy.1_Missense_Mutation_p.S163F	NM_013404	NP_037536	Q13421	MSLN_HUMAN	mesothelin isoform 2 preproprotein	506					cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				pancreas(1)	1		Hepatocellular(780;0.00335)				AAGATCCAGTCCTTCCTGGGT	0.632													16	24					0	0	0.004990	0	0
C16orf42	115939	broad.mit.edu	37	16	1400074	1400075	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:1400074_1400075GG>AA	uc002cll.2	-	4	755_756	c.687_688CC>TT	c.(685-690)CCCCAG>CCTTAG	p.Q230*	GNPTG_uc002clm.2_5'Flank	NM_001001410	NP_001001410	Q9UJK0	TSR3_HUMAN	hypothetical protein LOC115939	230					rRNA processing						0		Hepatocellular(780;0.0893)				TCCTCCTCCTGGGGGCTCTCCT	0.668													7	8					0	0	0.004672	0	0
HAGH	3029	broad.mit.edu	37	16	1859771	1859771	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:1859771G>A	uc002cna.2	-	8	1218	c.811C>T	c.(811-813)CCC>TCC	p.P271S	HAGH_uc002cmz.2_Missense_Mutation_p.P223S|HAGH_uc010uvp.1_Silent_p.T234T|HAGH_uc002cnb.1_Missense_Mutation_p.P223S	NM_005326	NP_005317	Q16775	GLO2_HUMAN	hydroxyacylglutathione hydrolase isoform 1	271					glutathione biosynthetic process	cytoplasm|mitochondrial matrix|mitochondrial matrix	hydroxyacylglutathione hydrolase activity|zinc ion binding			ovary(1)	1		Hepatocellular(780;0.00335)			Glutathione(DB00143)	CTCATGAAGGGGTTGTAGGTA	0.617													12	48					0	0	0.002450	0	0
PKD1	5310	broad.mit.edu	37	16	2160338	2160338	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:2160338G>A	uc002cos.1	-	15	5039	c.4830C>T	c.(4828-4830)ATC>ATT	p.I1610I	PKD1_uc002cot.1_Silent_p.I1610I	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	1610	PKD 11.|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						CAGCCGTGACGATGATATTGA	0.612													15	32					0	0	0.004007	0	0
C16orf79	283870	broad.mit.edu	37	16	2260557	2260557	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:2260557C>T	uc010bsh.2	-	2	323	c.146G>A	c.(145-147)GGA>GAA	p.G49E	C16orf79_uc002cpi.1_Missense_Mutation_p.G49E	NM_182563	NP_872369	Q6PL45	CP079_HUMAN	hypothetical protein LOC283870	49	Helical; (Potential).					integral to membrane				central_nervous_system(1)	1						AAGAAGCCCTCCAGCCACAAC	0.557													12	21					0	0	0.001855	0	0
PRSS33	260429	broad.mit.edu	37	16	2834765	2834765	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:2834765C>T	uc002cro.1	-	6	883	c.723G>A	c.(721-723)GGG>GGA	p.G241G	PRSS33_uc002crp.1_3'UTR|PRSS33_uc010uwh.1_Silent_p.G241G	NM_152891	NP_690851	Q8NF86	PRS33_HUMAN	protease, serine, 33 precursor	241	Peptidase S1.				proteolysis		serine-type endopeptidase activity				0						GGACCCAGCTCCCAGACTGCA	0.622													3	9					0	0	0.004672	0	0
ZG16B	124220	broad.mit.edu	37	16	2881991	2881991	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:2881991C>T	uc002cru.2	+	4	534	c.458C>T	c.(457-459)TCC>TTC	p.S153F		NM_145252	NP_660295	Q96DA0	ZG16B_HUMAN	zymogen granule protein 16 homolog B precursor	153						extracellular region	sugar binding	p.S153P(1)		ovary(1)	1						GGCCAGATCTCCTCTGCCTAC	0.507													25	47					0	0	0.003954	0	0
CLDN6	9074	broad.mit.edu	37	16	3065695	3065695	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:3065695C>T	uc002csu.3	-	2	388	c.328G>A	c.(328-330)GAG>AAG	p.E110K		NM_021195	NP_067018	P56747	CLD6_HUMAN	claudin 6	110	Cytoplasmic (Potential).				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity				0						GAATCCTTCTCCTCCACACAG	0.612													6	20					0	0	0.001168	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3141590	3141590	+	Silent	SNP	C	T	T	rs147307513		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:3141590C>T	uc002ctv.1	-	4	661	c.573G>A	c.(571-573)CTG>CTA	p.L191L	ZSCAN10_uc002cty.1_5'UTR|ZSCAN10_uc002ctw.1_Silent_p.L109L|ZSCAN10_uc002ctx.1_Silent_p.L119L	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	191					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						CCTCAAAGGTCAGGCACTCCT	0.522													21	38					0	0	0.008871	0	0
ZNF205	7755	broad.mit.edu	37	16	3170014	3170014	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:3170014C>T	uc002cub.2	+	7	1488	c.1353C>T	c.(1351-1353)CCC>CCT	p.P451P	ZNF205_uc002cua.2_Silent_p.P451P	NM_001042428	NP_001035893	O95201	ZN205_HUMAN	zinc finger protein 205	451	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding				0						ATCCGTGCCCCGAGTGCGGCA	0.642													14	28					0	0	0.001855	0	0
ZNF205	7755	broad.mit.edu	37	16	3170236	3170236	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:3170236C>T	uc002cub.2	+	7	1710	c.1575C>T	c.(1573-1575)ATC>ATT	p.I525I	ZNF205_uc002cua.2_Silent_p.I525I	NM_001042428	NP_001035893	O95201	ZN205_HUMAN	zinc finger protein 205	525	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding				0						ACGAGAAGATCCACACCACCG	0.632													11	11					0	0	0.008291	0	0
OR1F1	4992	broad.mit.edu	37	16	3254528	3254528	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:3254528C>T	uc010uwu.1	+	1	282	c.282C>T	c.(280-282)TTC>TTT	p.F94F		NM_012360	NP_036492	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F,	94	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CCATCTCCTTCTGTGGCTGTC	0.502													52	109					0	0	0.003610	0	0
CREBBP	1387	broad.mit.edu	37	16	3900527	3900527	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:3900527T>A	uc002cvv.2	-	2	773	c.569A>T	c.(568-570)AAT>ATT	p.N190I	CREBBP_uc002cvw.2_Missense_Mutation_p.N190I	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	190					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	p.N190fs*8(1)		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)		AGAGTTACTATTGAGGAGGCC	0.542			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				16	45					0	0	0.006122	0	0
ADCY9	115	broad.mit.edu	37	16	4042190	4042190	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:4042190C>T	uc002cvx.2	-	5	2703	c.2164G>A	c.(2164-2166)GAG>AAG	p.E722K		NM_001116	NP_001107	O60503	ADCY9_HUMAN	adenylate cyclase 9	722	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6						TCCGTTTTCTCCCGGATGTTC	0.552													20	57					0	0	0.002299	0	0
PPL	5493	broad.mit.edu	37	16	4934161	4934162	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:4934161_4934162CC>TT	uc002cyd.1	-	22	4584_4585	c.4494_4495GG>AA	c.(4492-4497)AAGGTG>AAAATG	p.V1499M		NM_002705	NP_002696	O60437	PEPL_HUMAN	periplakin	1499	Potential.				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(4)|central_nervous_system(1)|skin(1)	6						GAGAGCACCACCTTCTCCTTGA	0.639													15	45					0	0	0.004672	0	0
PPL	5493	broad.mit.edu	37	16	4944501	4944501	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:4944501G>A	uc002cyd.1	-	12	1451	c.1361C>T	c.(1360-1362)CCC>CTC	p.P454L		NM_002705	NP_002696	O60437	PEPL_HUMAN	periplakin	454	Spectrin 2.				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(4)|central_nervous_system(1)|skin(1)	6						AGGGTCTGTGGGGGGGATCAC	0.612													7	35					0	0	0.004482	0	0
A2BP1	54715	broad.mit.edu	37	16	7568204	7568204	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:7568204C>T	uc002cys.2	+	5	1071	c.83C>T	c.(82-84)GCC>GTC	p.A28V	A2BP1_uc010buf.1_Missense_Mutation_p.A28V|A2BP1_uc002cyr.1_Missense_Mutation_p.A28V|A2BP1_uc002cyt.2_Missense_Mutation_p.A28V|A2BP1_uc010uxz.1_Missense_Mutation_p.A71V|A2BP1_uc010uya.1_Missense_Mutation_p.A64V|A2BP1_uc002cyv.1_Missense_Mutation_p.A28V|A2BP1_uc010uyb.1_Missense_Mutation_p.A28V|A2BP1_uc002cyw.2_Missense_Mutation_p.A48V|A2BP1_uc002cyy.2_Missense_Mutation_p.A48V|A2BP1_uc002cyx.2_Missense_Mutation_p.A48V|A2BP1_uc010uyc.1_Missense_Mutation_p.A48V	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	ataxin 2-binding protein 1 isoform 4	28					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding				0		all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211)		Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499)		TACGCTTCGGCCCAGTTTGCT	0.602													23	70					0	0	0.002780	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858016	9858016	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:9858016G>A	uc002czo.3	-	13	3933	c.3385C>T	c.(3385-3387)CAC>TAC	p.H1129Y	GRIN2A_uc010uym.1_Missense_Mutation_p.H1129Y|GRIN2A_uc010uyn.1_Missense_Mutation_p.H972Y|GRIN2A_uc002czr.3_Missense_Mutation_p.H1129Y	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	1129	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGATCTAAGTGGAAACCAGGC	0.522													29	86					0	0	0.007291	0	0
CLEC16A	23274	broad.mit.edu	37	16	11272417	11272417	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:11272417C>T	uc002dao.2	+	24	3262	c.3032C>T	c.(3031-3033)CCC>CTC	p.P1011L	CLEC16A_uc002dap.2_Missense_Mutation_p.P98L	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	1011										ovary(1)|central_nervous_system(1)	2						ACCCTTGTCCCCCCAGTTGAC	0.697													6	11					0	0	0.001168	0	0
SNX29	92017	broad.mit.edu	37	16	12371844	12371844	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:12371844G>A	uc002dby.3	+	8	634	c.578G>A	c.(577-579)GGA>GAA	p.G193E		NM_001080530	NP_001073999	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	193					cell communication		phosphatidylinositol binding			ovary(1)	1						CAGAAGCCGGGAGAAATTGCT	0.443													5	4					0	0	0.001984	0	0
NOMO1	23420	broad.mit.edu	37	16	14980679	14980679	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:14980679C>T	uc002dcv.2	+	28	3350	c.3284C>T	c.(3283-3285)TCC>TTC	p.S1095F		NM_014287	NP_055102	Q15155	NOMO1_HUMAN	nodal modulator 1 precursor	1095	Extracellular (Potential).					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			ovary(1)	1						CTTGGCCAGTCCCTGTTCTTC	0.468													26	145					0	0	0.004878	0	0
ABCC1	4363	broad.mit.edu	37	16	16230362	16230362	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:16230362C>T	uc010bvi.2	+	29	4328	c.4153C>T	c.(4153-4155)CGA>TGA	p.R1385*	ABCC1_uc010bvj.2_Nonsense_Mutation_p.R1326*|ABCC1_uc010bvk.2_Nonsense_Mutation_p.R1329*|ABCC1_uc010bvl.2_Nonsense_Mutation_p.R1385*|ABCC1_uc010bvm.2_Nonsense_Mutation_p.R1270*|ABCC1_uc002del.3_Nonsense_Mutation_p.R1279*	NM_004996	NP_004987	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C, member 1	1385	ABC transporter 2.|Cytoplasmic.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)	4					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GGGTTCCCTCCGAATGAACCT	0.552													9	24					0	0	0.001368	0	0
ABCC6	368	broad.mit.edu	37	16	16259567	16259567	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:16259567G>A	uc002den.3	-	23	3256	c.3219C>T	c.(3217-3219)CTC>CTT	p.L1073L	ABCC6_uc010bvo.2_RNA	NM_001171	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C, member 6	1073	ABC transmembrane type-1 2.|Helical; Name=14; (By similarity).				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			skin(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		TGACCTCCAGGAGTCCAAAGG	0.582													16	29					0	0	0.006122	0	0
ABCC6	368	broad.mit.edu	37	16	16278880	16278880	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:16278880C>T	uc002den.3	-	15	1916	c.1879G>A	c.(1879-1881)GAT>AAT	p.D627N	ABCC6_uc010bvo.2_RNA|ABCC6_uc010uzz.1_Missense_Mutation_p.D639N	NM_001171	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C, member 6	627	Cytoplasmic (By similarity).				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			skin(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		GTGATGCAATCCTTCCCGGCA	0.632													12	36					0	0	0.001368	0	0
TMC5	79838	broad.mit.edu	37	16	19505676	19505676	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:19505676G>A	uc002dgc.3	+	20	3668	c.2919G>A	c.(2917-2919)AGG>AGA	p.R973R	TMC5_uc010vaq.1_Silent_p.R921R|TMC5_uc002dgb.3_Silent_p.R915R|TMC5_uc010var.1_Silent_p.R973R|TMC5_uc002dge.3_Silent_p.R727R|TMC5_uc002dgf.3_Silent_p.R656R|TMC5_uc002dgg.3_Silent_p.R614R	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5 isoform a	973	Extracellular (Potential).					integral to membrane				skin(1)	1						TTCTGGAAAGGAGAGAGGTGG	0.498													25	63					0	0	0.003330	0	0
CP110	9738	broad.mit.edu	37	16	19539302	19539302	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:19539302C>T	uc002dgl.3	+	2	346	c.99C>T	c.(97-99)ATC>ATT	p.I33I	CP110_uc002dgk.3_Silent_p.I33I			O43303	CP110_HUMAN	RecName: Full=Centrosomal protein of 110 kDa;          Short=Cep110;	33	CEP97 binding.				centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding				0						CTGAAAGTATCTCACTTATTC	0.368													11	42					0	0	0.008291	0	0
GP2	2813	broad.mit.edu	37	16	20335310	20335310	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:20335310C>T	uc002dgv.2	-	3	446	c.363G>A	c.(361-363)CTG>CTA	p.L121L	GP2_uc002dgw.2_Silent_p.L121L|GP2_uc002dgx.2_Intron|GP2_uc002dgy.2_Intron	NM_001007240	NP_001007241	P55259	GP2_HUMAN	zymogen granule membrane glycoprotein 2 isoform	121						anchored to membrane|extracellular region|plasma membrane				ovary(3)|skin(1)	4						GGGTCCCATTCAGCCACATGG	0.582													14	36					0	0	0.003163	0	0
GP2	2813	broad.mit.edu	37	16	20335546	20335546	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:20335546C>T	uc002dgv.2	-	3	210	c.127G>A	c.(127-129)GGG>AGG	p.G43R	GP2_uc002dgw.2_Missense_Mutation_p.G43R|GP2_uc002dgx.2_Intron|GP2_uc002dgy.2_Intron	NM_001007240	NP_001007241	P55259	GP2_HUMAN	zymogen granule membrane glycoprotein 2 isoform	43						anchored to membrane|extracellular region|plasma membrane				ovary(3)|skin(1)	4						AGGTCCAGCCCATACGAACTG	0.532													14	21					0	0	0.002450	0	0
PDILT	204474	broad.mit.edu	37	16	20384443	20384443	+	Missense_Mutation	SNP	C	T	T	rs78666211		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:20384443C>T	uc002dhc.1	-	6	906	c.683G>A	c.(682-684)GGA>GAA	p.G228E		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis	228					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			large_intestine(1)	1						CACAATTTTTCCCTTGTACAA	0.343													28	55					0	0	0.007291	0	0
ACSM2A	123876	broad.mit.edu	37	16	20486981	20486981	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:20486981C>T	uc010bwe.2	+	9	1223	c.984C>T	c.(982-984)TTC>TTT	p.F328F	ACSM2A_uc010vax.1_Silent_p.F249F|ACSM2A_uc002dhf.3_Silent_p.F328F|ACSM2A_uc002dhg.3_Silent_p.F328F|ACSM2A_uc010vay.1_Silent_p.F249F|ACSM2A_uc002dhh.3_5'UTR	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member	328					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			skin(2)|breast(1)	3						GTTACAAGTTCCCCCATCTAC	0.512													32	84					0	0	0.002836	0	0
ACSM2A	123876	broad.mit.edu	37	16	20491931	20491931	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:20491931G>A	uc010bwe.2	+	12	1557	c.1318G>A	c.(1318-1320)GAC>AAC	p.D440N	ACSM2A_uc010vax.1_Missense_Mutation_p.D361N|ACSM2A_uc002dhf.3_Missense_Mutation_p.D440N|ACSM2A_uc002dhg.3_Missense_Mutation_p.D440N|ACSM2A_uc010vay.1_Missense_Mutation_p.D361N|ACSM2A_uc002dhh.3_Missense_Mutation_p.D70N	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member	440					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			skin(2)|breast(1)	3						CATTCGAGGAGACTTTTGGCT	0.512													22	98					0	0	0.005443	0	0
ACSM2B	348158	broad.mit.edu	37	16	20554548	20554548	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:20554548C>T	uc002dhj.3	-	12	1528	c.1318G>A	c.(1318-1320)GAC>AAC	p.D440N	ACSM2B_uc002dhk.3_Missense_Mutation_p.D440N|ACSM2B_uc010bwf.1_Missense_Mutation_p.D440N	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member	440					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						AGCCAAAAGTCTCCTCGAATG	0.512													19	82					0	0	0.003330	0	0
ACSM1	116285	broad.mit.edu	37	16	20636825	20636825	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:20636825C>T	uc002dhm.1	-	11	1515	c.1447G>A	c.(1447-1449)GAG>AAG	p.E483K	ACSM1_uc002dhn.1_Intron|ACSM1_uc010bwg.1_Missense_Mutation_p.E483K	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member	483					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|skin(1)	2						CTTTCAACCTCTGCAGGCCCG	0.612													3	13					0	0	0.004672	0	0
DNAH3	55567	broad.mit.edu	37	16	20994050	20994050	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:20994050G>A	uc010vbe.1	-	49	7852	c.7852C>T	c.(7852-7854)CGG>TGG	p.R2618W	DNAH3_uc010vbd.1_Missense_Mutation_p.R53W	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2618	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		TACTCTACCCGAATGTTGTCA	0.413													16	36					0	0	0.001523	0	0
ZP2	7783	broad.mit.edu	37	16	21213473	21213473	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:21213473C>T	uc002dii.2	-	11	1239	c.1239G>A	c.(1237-1239)GGG>GGA	p.G413G	ZP2_uc010bwn.1_Silent_p.G452G	NM_003460	NP_003451	Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 preproprotein	413	Extracellular (Potential).|ZP.				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(48;0.0573)		ACCGTACCAGCCCCTGAGACT	0.512													7	24					0	0	0.001984	0	0
SCNN1G	6340	broad.mit.edu	37	16	23205548	23205548	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:23205548G>A	uc002dlm.1	+	5	1005	c.866G>A	c.(865-867)AGA>AAA	p.R289K		NM_001039	NP_001030	P51170	SCNNG_HUMAN	sodium channel, nonvoltage-gated 1, gamma	289	Extracellular (By similarity).				excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TTCAACAACAGAGAAAATGAG	0.493													26	87					0	0	0.003755	0	0
GTF3C1	2975	broad.mit.edu	37	16	27503759	27503759	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:27503759G>A	uc002dov.1	-	19	3091	c.3051C>T	c.(3049-3051)AGC>AGT	p.S1017S	GTF3C1_uc002dou.2_Silent_p.S1017S	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	1017				ARSS -> GRRR (in Ref. 1; AAA17985).		transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						AGGGCCGGCTGCTGCGGGCCA	0.532													16	61					0	0	0.001882	0	0
SBK1	388228	broad.mit.edu	37	16	28331765	28331765	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:28331765C>T	uc002dpd.2	+	4	1587	c.798C>T	c.(796-798)TTC>TTT	p.F266F		NM_001024401	NP_001019572	Q52WX2	SBK1_HUMAN	SH3-binding kinase 1	266	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			ovary(1)|kidney(1)	2						TCGAGGAGTTCGTGCGCTGGC	0.716													11	23					0	0	0.002450	0	0
Unknown	0	broad.mit.edu	37	16	28468171	28468171	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:28468171G>A	uc010vct.1	-	8	1645	c.864C>T	c.(862-864)CCC>CCT	p.P288P						RecName: Full=Nuclear pore complex-interacting protein-like 2; Flags: Precursor;																		AGGGTGGAAGGGGAGTGAGCA	0.512													15	7					0	0	0.007413	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29906686	29906686	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:29906686G>A	uc002duq.3	-	5	987	c.747C>T	c.(745-747)TCC>TCT	p.S249S	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Silent_p.S179S|SEZ6L2_uc002dur.3_Silent_p.S179S|SEZ6L2_uc002dus.3_Intron|SEZ6L2_uc010vec.1_Silent_p.S249S|SEZ6L2_uc010ved.1_Silent_p.S205S	NM_201575	NP_963869	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2 isoform	249	CUB 1.|Extracellular (Potential).					endoplasmic reticulum membrane|integral to membrane|plasma membrane				ovary(1)|skin(1)	2						CTCCAAGCATGGATGAGTTGG	0.632													30	70					0	0	0.001786	0	0
TAOK2	9344	broad.mit.edu	37	16	29998918	29998918	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:29998918C>T	uc002dva.1	+	16	4108	c.3325C>T	c.(3325-3327)CGG>TGG	p.R1109W	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Intron|TAOK2_uc002dvc.1_Intron|TAOK2_uc010bzm.1_Missense_Mutation_p.R1116W|TAOK2_uc002dvd.1_Missense_Mutation_p.R936W	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	TAO kinase 2 isoform 2	1109					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1						TGTGGGGGACCGGGGTCTGTT	0.687													21	71					0	0	0.001882	0	0
ZNF768	79724	broad.mit.edu	37	16	30536501	30536501	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:30536501G>A	uc002dyk.3	-	2	1136	c.960C>T	c.(958-960)CCC>CCT	p.P320P	ZNF768_uc010vex.1_Silent_p.P289P|uc002dyl.1_5'Flank|ZNF768_uc010vew.1_Silent_p.P289P	NM_024671	NP_078947	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	320	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding				0						TGCCGCAACGGGGACATTTGT	0.602													6	16					0	0	0.001168	0	0
SRCAP	10847	broad.mit.edu	37	16	30712165	30712165	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:30712165C>T	uc002dze.1	+	3	405	c.20C>T	c.(19-21)CCT>CTT	p.P7L		NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	7					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			AGCCCCTCCCCTGCTCACCCT	0.567													11	16					0	0	0.000978	0	0
RNF40	9810	broad.mit.edu	37	16	30779532	30779533	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:30779532_30779533CC>TT	uc002dzq.2	+	13	1783_1784	c.1660_1661CC>TT	c.(1660-1662)CCT>TTT	p.P554F	RNF40_uc010caa.2_Missense_Mutation_p.P554F|RNF40_uc010cab.2_Missense_Mutation_p.P454F|RNF40_uc010vfa.1_Intron|RNF40_uc002dzr.2_Missense_Mutation_p.P554F|RNF40_uc010vfb.1_Missense_Mutation_p.P246F|RNF40_uc010vfc.1_5'Flank	NM_014771	NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40	554					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)	1			Colorectal(24;0.198)			TGGGCCAGGCCCTGTCAGTACC	0.634													12	32					0	0	0.004672	0	0
ZNF629	23361	broad.mit.edu	37	16	30795488	30795488	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:30795488T>G	uc002dzs.1	-	3	369	c.161A>C	c.(160-162)GAA>GCA	p.E54A		NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	54					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			Colorectal(24;0.198)			GTCCTTGGATTCTGGACTCTG	0.572													7	14					0	0	0.001984	0	0
ITGAX	3687	broad.mit.edu	37	16	31391899	31391899	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:31391899C>T	uc002ebu.1	+	28	3297	c.3230C>T	c.(3229-3231)TCC>TTC	p.S1077F	ITGAX_uc002ebt.2_Missense_Mutation_p.S1077F	NM_000887	NP_000878	P20702	ITAX_HUMAN	integrin alpha X precursor	1077	Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						TTCGACACATCCGTGTACTCC	0.557													27	41					0	0	0.002836	0	0
ITGAD	3681	broad.mit.edu	37	16	31424472	31424472	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:31424472C>T	uc002ebv.1	+	16	1950	c.1901C>T	c.(1900-1902)GCT>GTT	p.A634V	ITGAD_uc010cap.1_Missense_Mutation_p.A635V	NM_005353	NP_005344	Q13349	ITAD_HUMAN	integrin, alpha D precursor	634	Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			skin(1)	1						GTGGCCAAGGCTGTGTACCGG	0.612													19	56					0	0	0.007413	0	0
C16orf58	64755	broad.mit.edu	37	16	31503562	31503562	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:31503562G>A	uc002eci.1	-	11	1199	c.1187C>T	c.(1186-1188)CCC>CTC	p.P396L	C16orf58_uc002ecg.2_5'Flank|C16orf58_uc002ech.1_Missense_Mutation_p.P134L	NM_022744	NP_073581	Q96GQ5	CP058_HUMAN	hypothetical protein LOC64755	396						integral to membrane				ovary(1)|breast(1)	2						TGCTGGAAGGGGTCCATCTCC	0.607													9	25					0	0	0.006214	0	0
Unknown	0	broad.mit.edu	37	16	33784745	33784745	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:33784745C>T	uc010vgb.1	+	2	154	c.134C>T	c.(133-135)GCC>GTC	p.A45V						RecName: Full=Transporter;																		ATGGGCTGGGCCTTCGTGCTG	0.617													4	20					0	0	0.000602	0	0
C16orf78	123970	broad.mit.edu	37	16	49430357	49430357	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:49430357G>A	uc002efr.2	+	4	461	c.418G>A	c.(418-420)GAC>AAC	p.D140N		NM_144602	NP_653203	Q8WTQ4	CP078_HUMAN	hypothetical protein LOC123970	140										central_nervous_system(1)	1						GGATGCAGTCGACCCAGAGTC	0.517													13	28					0	0	0.004007	0	0
SALL1	6299	broad.mit.edu	37	16	51174599	51174599	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:51174599G>T	uc010vgs.1	-	2	1565	c.1534C>A	c.(1534-1536)CCT>ACT	p.P512T	SALL1_uc010vgr.1_Missense_Mutation_p.P415T|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	512					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(5)|ovary(3)	8		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TCAGGCACAGGATAGGGGTTC	0.517													26	54					8.24728e-16	1.07917e-15	0.004656	1	0
MMP2	4313	broad.mit.edu	37	16	55522468	55522468	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:55522468G>A	uc002ehz.3	+	6	1157	c.846G>A	c.(844-846)ATG>ATA	p.M282I	MMP2_uc010vhd.1_Missense_Mutation_p.M206I|MMP2_uc010ccc.2_Missense_Mutation_p.M232I	NM_004530	NP_004521	P08253	MMP2_HUMAN	matrix metalloproteinase 2 isoform a	282	Collagen-binding.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	11		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	TGTTCACCATGGGCGGCAACG	0.577													5	8					0	0	0.000602	0	0
MT1F	4494	broad.mit.edu	37	16	56692623	56692623	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:56692623A>C	uc002ejt.2	+	2	181	c.65A>C	c.(64-66)AAA>ACA	p.K22T		NM_005949	NP_005940	P04733	MT1F_HUMAN	metallothionein 1F	22	Beta.					cytoplasm	cadmium ion binding|copper ion binding|zinc ion binding				0						TGCAAGTGCAAAGAGTGCAAA	0.562													13	27					0	0	0.006122	0	0
NLRC5	84166	broad.mit.edu	37	16	57060774	57060774	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:57060774C>T	uc002ekk.1	+	6	2144	c.1919C>T	c.(1918-1920)CCC>CTC	p.P640L	NLRC5_uc010ccq.1_RNA|NLRC5_uc002ekn.2_Missense_Mutation_p.P445L|NLRC5_uc002ekl.2_Missense_Mutation_p.P445L|NLRC5_uc002ekm.2_Missense_Mutation_p.P445L|NLRC5_uc010ccr.1_RNA	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	nucleotide-binding oligomerization domains 27	640					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			ovary(4)|skin(2)|breast(1)	7		all_neural(199;0.225)				TATCAACTGCCCTTCCACAAT	0.582													14	37					0	0	0.001855	0	0
RSPRY1	89970	broad.mit.edu	37	16	57269052	57269052	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:57269052C>T	uc002elb.2	+	14	1824	c.1546C>T	c.(1546-1548)CTG>TTG	p.L516L	RSPRY1_uc002elc.2_Silent_p.L516L|RSPRY1_uc002eld.2_Silent_p.L516L	NM_133368	NP_588609	Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	516						extracellular region	zinc ion binding			ovary(1)	1						GCGTCTTGCTCTGTTGAAGCA	0.418													15	37					0	0	0.003163	0	0
CCDC135	84229	broad.mit.edu	37	16	57731954	57731954	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:57731954G>A	uc002emi.2	+	2	182	c.93G>A	c.(91-93)ATG>ATA	p.M31I	CCDC135_uc002emj.2_Missense_Mutation_p.M31I|CCDC135_uc002emk.2_Missense_Mutation_p.M31I	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	31	Potential.					cytoplasm				central_nervous_system(1)	1						TGGAGAAAATGATGAGGCCAG	0.438													7	11					0	0	0.001984	0	0
KATNB1	10300	broad.mit.edu	37	16	57775606	57775606	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:57775606C>T	uc002eml.1	+	3	422	c.48C>T	c.(46-48)ATC>ATT	p.I16I		NM_005886	NP_005877	Q9BVA0	KTNB1_HUMAN	katanin p80 subunit B 1	16	Interaction with centrosomes.|Interaction with dynein (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)				TAGAAGAGATCGTCGCGCATG	0.652													8	32					0	0	0.006214	0	0
NDRG4	65009	broad.mit.edu	37	16	58545466	58545466	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:58545466G>A	uc002eno.2	+	15	1151	c.1045G>A	c.(1045-1047)GAG>AAG	p.E349K	NDRG4_uc002enk.2_Missense_Mutation_p.E368K|NDRG4_uc002enm.2_Missense_Mutation_p.E388K|NDRG4_uc010vif.1_Missense_Mutation_p.E368K|NDRG4_uc010cdk.2_Missense_Mutation_p.E354K|NDRG4_uc010vig.1_Missense_Mutation_p.E366K|NDRG4_uc010vih.1_Missense_Mutation_p.E281K|NDRG4_uc010vii.1_Missense_Mutation_p.E354K|NDRG4_uc002enp.2_Missense_Mutation_p.E336K|NDRG4_uc002enq.1_Intron	NM_022910	NP_075061	Q9ULP0	NDRG4_HUMAN	NDRG family member 4 isoform 1	349					cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm				skin(1)	1						CCACACCATGGAGGTGTCCTG	0.627													13	41					0	0	0.002450	0	0
CNOT1	23019	broad.mit.edu	37	16	58576357	58576358	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:58576357_58576358GG>AA	uc002env.2	-	32	4842_4843	c.4549_4550CC>TT	c.(4549-4551)CCT>TTT	p.P1517F	CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.P1512F|CNOT1_uc010vik.1_Missense_Mutation_p.P474F	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1517					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GTCCATCTCAGGGCCTGCTTTT	0.386													66	192					0	0	0.004672	0	0
CNOT1	23019	broad.mit.edu	37	16	58580365	58580365	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:58580365T>C	uc002env.2	-	29	4159	c.3866A>G	c.(3865-3867)AAC>AGC	p.N1289S	CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.N1284S|CNOT1_uc002enx.2_Missense_Mutation_p.N1289S|CNOT1_uc010vik.1_Missense_Mutation_p.N246S	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1289					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TAATGCAAGGTTCTTGCAGAG	0.348													23	48					0	0	0.003330	0	0
CES2	8824	broad.mit.edu	37	16	66976689	66976689	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:66976689G>A	uc002eqr.2	+	10	2612	c.1612_splice	c.e10+1	p.I538_splice	CES2_uc002eqq.2_Intron|CES2_uc002eqs.2_Splice_Site_p.I381_splice	NM_003869	NP_003860	O00748	EST2_HUMAN	carboxylesterase 2 isoform 1						catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		GGCAACTACAGTGAGTCTTCT	0.443													11	37					0	0	0.001855	0	0
CBFB	865	broad.mit.edu	37	16	67116155	67116155	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:67116155C>T	uc002era.2	+	5	700	c.439C>T	c.(439-441)CGG>TGG	p.R147W	CBFB_uc002erb.2_Missense_Mutation_p.R147W|CBFB_uc010vja.1_Intron	NM_001755	NP_001746	Q13951	PEBB_HUMAN	core-binding factor, beta subunit isoform 2	147					transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)	2		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00189)|Epithelial(162;0.00755)|all cancers(182;0.066)		TGAAGAGGCTCGGAGAAGGAC	0.398			T	MYH11	AML								15	40					0	0	0.003163	0	0
ACD	65057	broad.mit.edu	37	16	67692482	67692482	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:67692482G>T	uc002etq.3	-	9	1400	c.1063C>A	c.(1063-1065)CCT>ACT	p.P355T	ACD_uc002etp.3_Missense_Mutation_p.P352T|ACD_uc002etr.3_Missense_Mutation_p.P352T|ACD_uc010vjt.1_3'UTR|PARD6A_uc002ets.2_5'Flank|PARD6A_uc002ett.2_5'Flank|PARD6A_uc002etu.2_5'Flank	NM_001082486	NP_001075955	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog isoform 1	355	Ser-rich.				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)		GAGGAAGGAGGAGAGGCTATG	0.612													12	33					2.61681e-11	3.41656e-11	0.002450	1	0
PSKH1	5681	broad.mit.edu	37	16	67942834	67942834	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:67942834C>T	uc002euv.2	+	2	352	c.182C>T	c.(181-183)CCC>CTC	p.P61L	PSKH1_uc010cet.2_Missense_Mutation_p.P61L	NM_006742	NP_006733	P11801	KPSH1_HUMAN	protein serine kinase H1	61						endoplasmic reticulum membrane|Golgi apparatus|microtubule organizing center|nuclear speck|plasma membrane	ATP binding|protein serine/threonine kinase activity				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)		TATGCACACCCCTGCCCCGGT	0.597													4	14					0	0	0.000248	0	0
SNTB2	6645	broad.mit.edu	37	16	69333669	69333669	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:69333669G>A	uc002ewu.2	+	6	1542	c.1522G>A	c.(1522-1524)GGA>AGA	p.G508R	SNTB2_uc010cfk.2_5'Flank	NM_006750	NP_006741	Q13425	SNTB2_HUMAN	basic beta 2 syntrophin	508	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)		TGGTCCCGAGGGAGAACTGGT	0.423													21	35					0	0	0.004656	0	0
HYDIN	54768	broad.mit.edu	37	16	70972645	70972645	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:70972645C>T	uc002ezr.2	-	44	6992	c.6864G>A	c.(6862-6864)AAG>AAA	p.K2288K		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	2289	Potential.									ovary(1)|skin(1)	2		Ovarian(137;0.0654)				CAAGAGCTCCCTTGTGCTTGC	0.517													4	12					0	0	0.001168	0	0
HYDIN	54768	broad.mit.edu	37	16	71218768	71218768	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:71218768C>T	uc002ezr.2	-	3	389	c.261G>A	c.(259-261)AAG>AAA	p.K87K	HYDIN_uc010cfz.1_5'UTR|HYDIN_uc002ezv.2_Silent_p.K87K|HYDIN_uc010vmc.1_Silent_p.K104K|HYDIN_uc010vmd.1_Silent_p.K114K|HYDIN_uc002ezw.3_Silent_p.K104K	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	87										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				GAGCAGCTACCTTCTGATGTG	0.438													31	106					0	0	0.004878	0	0
ZFHX3	463	broad.mit.edu	37	16	72827388	72827388	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:72827388C>T	uc002fck.2	-	9	9866	c.9193G>A	c.(9193-9195)GAA>AAA	p.E3065K	ZFHX3_uc002fcl.2_Missense_Mutation_p.E2151K	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	3065					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				TCAAAGTATTCTTTCTCCTTG	0.498													28	100					0	0	0.003755	0	0
ZFHX3	463	broad.mit.edu	37	16	72845856	72845856	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:72845856G>T	uc002fck.2	-	6	4284	c.3611C>A	c.(3610-3612)TCT>TAT	p.S1204Y	ZFHX3_uc002fcl.2_Missense_Mutation_p.S290Y	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	1204					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				AGAGAGGGGAGACTCTGAGCT	0.532													35	90					4.65686e-17	6.09585e-17	0.003755	1	0
WDR59	79726	broad.mit.edu	37	16	74919580	74919580	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:74919580G>A	uc002fdh.1	-	25	2762	c.2660C>T	c.(2659-2661)TCC>TTC	p.S887F	WDR59_uc002fdf.1_Missense_Mutation_p.S332F|WDR59_uc002fdg.1_Missense_Mutation_p.S479F	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	887										ovary(1)|breast(1)	2						AGGAGGACAGGAGACAAACTT	0.448													15	52					0	0	0.004990	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77401601	77401601	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:77401601C>T	uc002ffc.3	-	4	934	c.515G>A	c.(514-516)CGA>CAA	p.R172Q	ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_RNA	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	172					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						TTCATTTTTTCGTGTCCTTAT	0.463													12	39					0	0	0.001368	0	0
CDYL2	124359	broad.mit.edu	37	16	80667066	80667066	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:80667066C>T	uc002ffs.2	-	3	789	c.684G>A	c.(682-684)AAG>AAA	p.K228K		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	228						nucleus	catalytic activity|protein binding			central_nervous_system(1)	1						AGACGTAGTCCTTCTCCGCTT	0.498													23	64					0	0	0.003954	0	0
PKD1L2	114780	broad.mit.edu	37	16	81236305	81236305	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:81236305G>A	uc002fgh.1	-	6	943	c.943C>T	c.(943-945)CCT>TCT	p.P315S	PKD1L2_uc002fgj.2_Missense_Mutation_p.P315S	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	315	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						AATTCCCCAGGAGATGTGAAC	0.532													9	21					0	0	0.006214	0	0
BCMO1	53630	broad.mit.edu	37	16	81320998	81320998	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:81320998G>A	uc002fgn.1	+	10	1619	c.1401G>A	c.(1399-1401)AAG>AAA	p.K467K	BCMO1_uc010vnp.1_Silent_p.K398K	NM_017429	NP_059125	Q9HAY6	BCDO1_HUMAN	beta-carotene 15,15'-monooxygenase	467					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity				0						CAGGTGCCAAGGATGAGGATG	0.532													14	34					0	0	0.002450	0	0
PLCG2	5336	broad.mit.edu	37	16	81960689	81960689	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:81960689G>A	uc002fgt.2	+	23	2572	c.2420G>A	c.(2419-2421)TGG>TAG	p.W807*		NM_002661	NP_002652	P16885	PLCG2_HUMAN	phospholipase C, gamma 2	807	SH3.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						TTATCCAGGTGGAAAGGAGAC	0.532													39	78					0	0	0.003214	0	0
CDH13	1012	broad.mit.edu	37	16	83816972	83816972	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:83816972G>A	uc002fgx.2	+	13	2149	c.2029G>A	c.(2029-2031)GTA>ATA	p.V677I	CDH13_uc010vns.1_Missense_Mutation_p.V724I|CDH13_uc010vnt.1_Missense_Mutation_p.V423I|CDH13_uc010vnu.1_Missense_Mutation_p.V638I	NM_001257	NP_001248	P55290	CAD13_HUMAN	cadherin 13 preproprotein	677	Cadherin 5.				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)		AGATCTCAGGGTACAAGTGTG	0.527													14	31					0	0	0.002450	0	0
OSGIN1	29948	broad.mit.edu	37	16	83994339	83994339	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:83994339C>T	uc002fha.2	+	5	1002	c.619C>T	c.(619-621)CGG>TGG	p.R207W	OSGIN1_uc002fhb.2_Missense_Mutation_p.R124W|OSGIN1_uc002fhc.2_Missense_Mutation_p.R124W	NM_013370	NP_037502	Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	207					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity				0						GGTTCTGGGCCGGAACCTCCC	0.657													6	18					0	0	0.004482	0	0
TAF1C	9013	broad.mit.edu	37	16	84212935	84212935	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:84212935G>A	uc002fhn.2	-	14	2450	c.2222C>T	c.(2221-2223)TCG>TTG	p.S741L	TAF1C_uc002fhm.2_Missense_Mutation_p.S647L|TAF1C_uc010vnx.1_Missense_Mutation_p.S715L|TAF1C_uc010vny.1_Missense_Mutation_p.S332L|TAF1C_uc010vnz.1_Missense_Mutation_p.S409L|TAF1C_uc002fho.2_Missense_Mutation_p.S264L|TAF1C_uc010voa.1_Missense_Mutation_p.S409L|TAF1C_uc002fhp.1_Intron	NM_005679	NP_005670	Q15572	TAF1C_HUMAN	TBP-associated factor 1C isoform 1	741					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			ovary(1)	1						CCCGGGCTCCGAGGTCCTGCC	0.687													9	14					0	0	0.004482	0	0
KIAA0513	9764	broad.mit.edu	37	16	85100875	85100875	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:85100875G>A	uc002fiu.2	+	2	418	c.198G>A	c.(196-198)TGG>TGA	p.W66*	KIAA0513_uc002fis.3_Nonsense_Mutation_p.W66*|KIAA0513_uc010voj.1_Nonsense_Mutation_p.W66*|KIAA0513_uc002fit.2_Nonsense_Mutation_p.W66*	NM_014732	NP_055547	O60268	K0513_HUMAN	hypothetical protein LOC9764	66						cytoplasm				breast(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.234)		ACCCGTCCTGGGACCAAGACC	0.617													5	16					0	0	0.001168	0	0
FOXC2	2303	broad.mit.edu	37	16	86602381	86602381	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:86602381C>T	uc002fjq.2	+	1	1525	c.1440C>T	c.(1438-1440)CCC>CCT	p.P480P		NM_005251	NP_005242	Q99958	FOXC2_HUMAN	forkhead box C2	480					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|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|transcription regulatory region DNA binding				0						GCCAGCTGCCCTACAGATCCA	0.652									Late-onset_Hereditary_Lymphedema				7	24					0	0	0.004482	0	0
FOXL1	2300	broad.mit.edu	37	16	86612503	86612503	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:86612503C>T	uc002fjr.2	+	1	389	c.174C>T	c.(172-174)ATC>ATT	p.I58I		NM_005250	NP_005241	Q12952	FOXL1_HUMAN	forkhead box L1	58	Fork-head.				brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			skin(1)	1						TCGCGCTCATCGCCATGGCGA	0.677													12	31					0	0	0.000978	0	0
JPH3	57338	broad.mit.edu	37	16	87717835	87717835	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:87717835C>T	uc002fkd.2	+	3	1502	c.1248C>T	c.(1246-1248)GCC>GCT	p.A416A	JPH3_uc010vou.1_RNA	NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN	junctophilin 3	416	Ala-rich.|Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			ovary(1)|pancreas(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0287)		GGATCACTGCCAAAGAGTTCT	0.652													8	19					0	0	0.004482	0	0
BANP	54971	broad.mit.edu	37	16	88105742	88105742	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:88105742C>T	uc002fkr.2	+	13	1633	c.1409C>T	c.(1408-1410)TCG>TTG	p.S470L	BANP_uc002fkp.2_Missense_Mutation_p.S443L|BANP_uc002fkq.2_Missense_Mutation_p.S421L|BANP_uc010vow.1_Missense_Mutation_p.S456L|BANP_uc002fks.3_Missense_Mutation_p.S417L	NM_079837	NP_524576	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein isoform b	471					cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0				BRCA - Breast invasive adenocarcinoma(80;0.00551)		GTGGATGGGTCGCCACTCCAG	0.731													9	8					0	0	0.004482	0	0
CPNE7	27132	broad.mit.edu	37	16	89645382	89645382	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:89645382A>T	uc002fnp.2	+	3	605	c.475A>T	c.(475-477)ACG>TCG	p.T159S	CPNE7_uc002fnq.2_Intron	NM_014427	NP_055242	Q9UBL6	CPNE7_HUMAN	copine 7 isoform b	159					lipid metabolic process		transporter activity				0		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		CCTTGCCAGGACGGGTCCTTC	0.318													5	32					0	0	0.001168	0	0
TCF25	22980	broad.mit.edu	37	16	89965178	89965178	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:89965178C>T	uc002fpb.2	+	11	1201	c.1119C>T	c.(1117-1119)CTC>CTT	p.L373L	TCF25_uc002fpc.2_Silent_p.L138L	NM_014972	NP_055787	Q9BQ70	TCF25_HUMAN	NULP1	373					heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		CCGGAAGTCTCGAGCCGGATG	0.647													7	20					0	0	0.003080	0	0
ABR	29	broad.mit.edu	37	17	975864	975864	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:975864G>A	uc002fsd.2	-	8	994	c.884C>T	c.(883-885)CCC>CTC	p.P295L	ABR_uc002fse.2_Missense_Mutation_p.P249L|ABR_uc010vqg.1_Missense_Mutation_p.P77L|ABR_uc002fsg.2_Missense_Mutation_p.P258L|ABR_uc002fsh.1_Missense_Mutation_p.P179L	NM_021962	NP_068781	Q12979	ABR_HUMAN	active breakpoint cluster region-related	295					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			upper_aerodigestive_tract(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		CTCCCCCTTGGGCGTTGTCAC	0.657													6	6					0	0	0.001984	0	0
SMG6	23293	broad.mit.edu	37	17	2186922	2186922	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:2186922C>T	uc002fub.1	-	7	2500	c.2445G>A	c.(2443-2445)CGG>CGA	p.R815R		NM_017575	NP_060045	Q86US8	EST1A_HUMAN	Smg-6 homolog, nonsense mediated mRNA decay	815					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						CACTCACCTTCCGCTTGGTCT	0.438													9	52					0	0	0.006214	0	0
PAFAH1B1	5048	broad.mit.edu	37	17	2583502	2583502	+	Silent	SNP	G	A	A	rs141525497		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:2583502G>A	uc002fuw.3	+	10	1615	c.1047G>A	c.(1045-1047)GGG>GGA	p.G349G	PAFAH1B1_uc010ckb.1_Intron|PAFAH1B1_uc010vqz.1_Silent_p.G144G	NM_000430	NP_000421	P43034	LIS1_HUMAN	platelet-activating factor acetylhydrolase,	349	Interaction with dynein and dynactin.|WD 6.				acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity			skin(1)	1						TCCATTCTGGGGGGAAGTTTA	0.408													32	124					0	0	0.004289	0	0
OR1G1	8390	broad.mit.edu	37	17	3030088	3030088	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:3030088C>T	uc002fvc.1	-	1	758	c.758G>A	c.(757-759)GGG>GAG	p.G253E		NM_003555	NP_003546	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G,	253	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						AAAAGAAGTCCCAAAGAAGAG	0.488													12	14					0	0	0.000978	0	0
OR1A1	8383	broad.mit.edu	37	17	3119115	3119115	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:3119115C>T	uc010vrc.1	+	1	201	c.201C>T	c.(199-201)TCC>TCT	p.S67S		NM_014565	NP_055380	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A,	67	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						CCAACCTCTCCTTGGTTGACA	0.483													37	153					0	0	0.002522	0	0
OR1A1	8383	broad.mit.edu	37	17	3119786	3119786	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:3119786G>A	uc010vrc.1	+	1	872	c.872G>A	c.(871-873)AGA>AAA	p.R291K		NM_014565	NP_055380	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A,	291	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						TACAGTCTGAGAAATCGGGAC	0.458													21	68					0	0	0.003954	0	0
Unknown	0	broad.mit.edu	37	17	3144062	3144062	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:3144062C>T	uc002fvf.2	+	1	146	c.93C>T	c.(91-93)TTC>TTT	p.F31F						SubName: Full=Olfactory receptor OR17-1;																		TTTGGATGTTCCTGTCCATGT	0.532													6	62					0	0	0.003080	0	0
OR3A4	390756	broad.mit.edu	37	17	3214036	3214036	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:3214036G>A	uc002fvi.2	+	1	498	c.432G>A	c.(430-432)CAG>CAA	p.Q144Q		NR_024128				RecName: Full=Olfactory receptor 3A4; AltName: Full=Olfactory receptor 17-24;          Short=OR17-24;											ovary(1)	1						GGGGAATCCAGCAAGCCCTGG	0.552													14	52					0	0	0.004007	0	0
OR3A4	390756	broad.mit.edu	37	17	3214091	3214092	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:3214091_3214092AC>TT	uc002fvi.2	+	1	553_554	c.487_488AC>TT	c.(487-489)ACT>TTT	p.T163F		NR_024128				RecName: Full=Olfactory receptor 3A4; AltName: Full=Olfactory receptor 17-24;          Short=OR17-24;											ovary(1)	1						ACTGACCCAAACTGTTGCCCTG	0.545													37	54					0	0	0.004672	0	0
TRPV3	162514	broad.mit.edu	37	17	3458031	3458031	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:3458031C>T	uc002fvt.1	-	2	436	c.114G>A	c.(112-114)AAG>AAA	p.K38K	TRPV3_uc010vrj.1_5'UTR|TRPV3_uc010vrk.1_RNA|TRPV3_uc002fvr.2_Silent_p.K38K|TRPV3_uc002fvu.2_Silent_p.K38K	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel,	38	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(4)	4					Menthol(DB00825)	CCCACCTCTTCTTTGTGGGGG	0.657													17	30					0	0	0.008871	0	0
TRPV1	7442	broad.mit.edu	37	17	3495396	3495396	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:3495396G>A	uc010vrr.1	-	1	776	c.249C>T	c.(247-249)ACC>ACT	p.T83T	TRPV1_uc010vro.1_Silent_p.T83T|TRPV1_uc010vrp.1_Silent_p.T83T|TRPV1_uc010vrq.1_Missense_Mutation_p.P58L|TRPV1_uc010vrs.1_Silent_p.T83T|TRPV1_uc010vrt.1_Silent_p.T83T|TRPV1_uc010vru.1_Silent_p.T83T	NM_080706	NP_542437	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel,	83	Cytoplasmic (Potential).				cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			ovary(1)	1				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	GCCTCTGGATGGTGATAACAG	0.652													8	30					0	0	0.006214	0	0
GSG2	83903	broad.mit.edu	37	17	3627278	3627278	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:3627278G>A	uc002fwp.2	+	1	82	c.49G>A	c.(49-51)GGG>AGG	p.G17R	ITGAE_uc002fwo.3_Intron|ITGAE_uc002fwn.3_5'Flank	NM_031965	NP_114171	Q8TF76	HASP_HUMAN	haspin	17					cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity				0						CCGCACATATGGGGCTGCGGA	0.692													4	21					0	0	0.000602	0	0
ATP2A3	489	broad.mit.edu	37	17	3851089	3851090	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:3851089_3851090CC>TT	uc002fxb.1	-	8	841_842	c.690_691GG>AA	c.(688-693)ACGGAG>ACAAAG	p.E231K	ATP2A3_uc002fwx.1_Missense_Mutation_p.E231K|ATP2A3_uc002fwy.1_Missense_Mutation_p.E231K|ATP2A3_uc002fwz.1_Missense_Mutation_p.E231K|ATP2A3_uc002fxa.1_Missense_Mutation_p.E231K|ATP2A3_uc002fxc.1_Missense_Mutation_p.E231K|ATP2A3_uc002fxd.1_Missense_Mutation_p.E231K	NM_174955	NP_777615	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous isoform b	231	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)		TTGCCCAGCTCCGTGTGCAGGC	0.663													10	36					0	0	0.004672	0	0
PLD2	5338	broad.mit.edu	37	17	4722407	4722407	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:4722407C>T	uc002fzc.2	+	22	2303	c.2202C>T	c.(2200-2202)TCC>TCT	p.S734S	PLD2_uc002fzd.2_Silent_p.S734S	NM_002663	NP_002654	O14939	PLD2_HUMAN	phospholipase D2	734	Catalytic.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	5					Choline(DB00122)	ACTATATTTCCATCTGCGGGC	0.612													8	25					0	0	0.003080	0	0
GPR172B	55065	broad.mit.edu	37	17	4937287	4937287	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:4937287C>T	uc002gap.3	-	3	1210	c.497G>A	c.(496-498)GGT>GAT	p.G166D	GPR172B_uc002gao.3_Missense_Mutation_p.G166D|GPR172B_uc010ckw.2_Missense_Mutation_p.G44D|GPR172B_uc010ckx.2_Missense_Mutation_p.G166D	NM_001104577	NP_001098047	Q9NWF4	RFT_HUMAN	G protein-coupled receptor 172B precursor	166	Helical; (Potential).					integral to plasma membrane	receptor activity|riboflavin transporter activity				0						GCGGCCCACACCTTGCACTAG	0.632													14	34					0	0	0.001855	0	0
BCL6B	255877	broad.mit.edu	37	17	6930106	6930107	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:6930106_6930107GG>AA	uc002geg.2	+	7	1194_1195	c.1137_1138GG>AA	c.(1135-1140)TCGGGA>TCAAGA	p.G380R	BCL6B_uc010clt.1_Missense_Mutation_p.G381R	NM_181844	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B (zinc finger	380						nucleus	zinc ion binding			skin(1)	1						GCATCCATTCGGGAGAGAAGCC	0.569													14	24					0	0	0.004672	0	0
PLSCR3	57048	broad.mit.edu	37	17	7293969	7293969	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:7293969C>T	uc002ggm.1	-	7	1024	c.815G>A	c.(814-816)GGA>GAA	p.G272E	PLSCR3_uc002ggl.2_Missense_Mutation_p.G248E|PLSCR3_uc002ggq.1_Missense_Mutation_p.G103E|PLSCR3_uc002ggn.1_Missense_Mutation_p.G272E|PLSCR3_uc002ggo.1_Missense_Mutation_p.G272E|PLSCR3_uc002ggp.1_Missense_Mutation_p.G103E|PLSCR3_uc002ggr.1_Missense_Mutation_p.G272E|PLSCR3_uc010cmg.1_Missense_Mutation_p.G272E	NM_020360	NP_065093	Q9NRY6	PLS3_HUMAN	phospholipid scramblase 3	272	Helical; (By similarity).				phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|calcium-dependent protein binding|phospholipid scramblase activity|SH3 domain binding				0		Prostate(122;0.173)				GAATGTGGCTCCCAGCAGCAC	0.582													27	54					0	0	0.001786	0	0
C17orf74	201243	broad.mit.edu	37	17	7330552	7330552	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:7330552G>A	uc002ggw.2	+	3	1315	c.1242G>A	c.(1240-1242)CGG>CGA	p.R414R	FGF11_uc010vtw.1_Intron	NM_175734	NP_783861	Q0P670	CQ074_HUMAN	hypothetical protein LOC201243	414						integral to membrane					0		Prostate(122;0.157)				CCCATCAACGGACCCCAGCTC	0.677													12	18					0	0	0.003163	0	0
DNAH2	146754	broad.mit.edu	37	17	7689558	7689558	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:7689558C>T	uc002giu.1	+	39	6260	c.6246C>T	c.(6244-6246)ATC>ATT	p.I2082I		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	2082	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCACCATGATCGTGGGCTGCA	0.572													12	31					0	0	0.004656	0	0
DNAH2	146754	broad.mit.edu	37	17	7691316	7691316	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:7691316G>A	uc002giu.1	+	42	6755	c.6741_splice	c.e42+1	p.K2247_splice		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3						ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GAGGCCAAAGGTATGAAGGGA	0.562													20	41					0	0	0.001523	0	0
KDM6B	23135	broad.mit.edu	37	17	7751368	7751369	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:7751368_7751369CC>TT	uc002giw.1	+	11	2138_2139	c.1762_1763CC>TT	c.(1762-1764)CCC>TTC	p.P588F	KDM6B_uc002gix.2_5'UTR	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	588	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|pancreas(1)	2						TCCCCGGCCTCCCAGCCCAGCA	0.535													8	48					0	0	0.004672	0	0
CNTROB	116840	broad.mit.edu	37	17	7849193	7849193	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:7849193C>T	uc002gjq.2	+	14	2801	c.1882C>T	c.(1882-1884)CCT>TCT	p.P628S	CNTROB_uc002gjp.2_Missense_Mutation_p.P628S|CNTROB_uc002gjr.2_Missense_Mutation_p.P530S	NM_053051	NP_444279	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	628	Pro-rich.|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)				TGGAGCGCCTCCTGTTCTTTG	0.597													39	71					0	0	0.008740	0	0
C17orf68	80169	broad.mit.edu	37	17	8133691	8133691	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:8133691C>T	uc002gkq.3	-	17	2913	c.2854G>A	c.(2854-2856)GAC>AAC	p.D952N	C17orf68_uc010cnv.2_RNA	NM_025099	NP_079375	Q2NKJ3	CTC1_HUMAN	alpha accessory factor 132	952					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding				0						AAGTGTGGGTCTTCTATATAT	0.517													14	24					0	0	0.003163	0	0
MYH8	4626	broad.mit.edu	37	17	10304075	10304075	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:10304075C>T	uc002gmm.2	-	27	3462	c.3367G>A	c.(3367-3369)GAA>AAA	p.E1123K	uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	1123	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						TCGATTTCTTCCCCCAGCTCC	0.522									Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling				9	48					0	0	0.008291	0	0
MYH4	4622	broad.mit.edu	37	17	10348625	10348625	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:10348625G>A	uc002gmn.2	-	36	5335	c.5224C>T	c.(5224-5226)CAG>TAG	p.Q1742*	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	1742	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|skin(2)|central_nervous_system(1)	13						ATCTCTCCCTGGATTTGGGAA	0.443													38	85					0	0	0.006230	0	0
MYH1	4619	broad.mit.edu	37	17	10408783	10408783	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:10408783G>A	uc002gmo.2	-	20	2314	c.2220C>T	c.(2218-2220)ATC>ATT	p.I740I	uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	740	Myosin head-like.					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						TCTTGCTATCGATGAATTGTC	0.413													10	40					0	0	0.006214	0	0
MYH2	4620	broad.mit.edu	37	17	10433055	10433055	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:10433055C>T	uc010coi.2	-	24	3071	c.2943G>A	c.(2941-2943)GTG>GTA	p.V981V	uc002gml.1_Intron|MYH2_uc002gmp.3_Silent_p.V981V|MYH2_uc010coj.2_Intron	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	981	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						TGAGGTTTTTCACCTACAAAG	0.458													62	103					0	0	0.003610	0	0
MYH3	4621	broad.mit.edu	37	17	10535964	10535964	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:10535964C>T	uc002gmq.1	-	33	4862	c.4785G>A	c.(4783-4785)GTG>GTA	p.V1595V		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	1595	Potential.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7						GCATGGTTTCCACTGTTCTCT	0.507													76	148					0	0	0.003610	0	0
DNAH9	1770	broad.mit.edu	37	17	11597666	11597666	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:11597666G>A	uc002gne.2	+	22	4842	c.4774G>A	c.(4774-4776)GAG>AAG	p.E1592K	DNAH9_uc010coo.2_Missense_Mutation_p.E886K	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	1592	Stem (By similarity).				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)		GGCCCTGGCAGAGTACCTCGA	0.483													8	47					0	0	0.003080	0	0
DNAH9	1770	broad.mit.edu	37	17	11738140	11738140	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:11738140G>A	uc002gne.2	+	49	9500	c.9432G>A	c.(9430-9432)AAG>AAA	p.K3144K	DNAH9_uc010coo.2_Silent_p.K2438K	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	3144	Stalk (By similarity).|Potential.				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)		AGAAGCAGAAGGACTGTGAGG	0.552													10	19					0	0	0.006214	0	0
DNAH9	1770	broad.mit.edu	37	17	11840836	11840836	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:11840836A>T	uc002gne.2	+	66	12725	c.12657A>T	c.(12655-12657)GAA>GAT	p.E4219D	DNAH9_uc010coo.2_Missense_Mutation_p.E3437D|DNAH9_uc002gnf.2_Missense_Mutation_p.E531D	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	4219					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)		CAAGAGAAGAAAAGGTGTGTG	0.592													5	18					0	0	0.001984	0	0
RICH2	9912	broad.mit.edu	37	17	12859201	12859201	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:12859201T>C	uc002gnr.3	+	14	1481	c.1154T>C	c.(1153-1155)TTA>TCA	p.L385S	RICH2_uc010vvk.1_Missense_Mutation_p.L385S|RICH2_uc010vvl.1_Missense_Mutation_p.L385S|RICH2_uc002gns.3_Missense_Mutation_p.L185S|RICH2_uc010vvm.1_Missense_Mutation_p.L385S|RICH2_uc010vvn.1_RNA|RICH2_uc002gnt.1_Missense_Mutation_p.L108S	NM_014859	NP_055674	Q17R89	RHG44_HUMAN	Rho GTPase-activating protein RICH2	385	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0						ATAAAATTTTTATCCAAGCTG	0.428													11	14					0	0	0.000978	0	0
CDRT1	374286	broad.mit.edu	37	17	15522746	15522747	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:15522746_15522747CC>TT	uc002gov.3	-	1	272_273	c.80_81GG>AA	c.(79-81)CGG>CAA	p.R27Q	TRIM16_uc002gor.1_Intron	NM_006382	NP_006373	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	27											0				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		TCTCACACTTCCGGCATAGAGG	0.465													89	169					0	0	0.004672	0	0
ZNF286A	57335	broad.mit.edu	37	17	15620080	15620080	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:15620080C>T	uc010cot.2	+	6	1438	c.1042C>T	c.(1042-1044)CAT>TAT	p.H348Y	ZNF286A_uc002goz.3_Missense_Mutation_p.H236Y|ZNF286A_uc010vwa.1_Missense_Mutation_p.H348Y|ZNF286A_uc002gpa.2_Missense_Mutation_p.H348Y	NM_001130842	NP_001124314	Q9HBT8	Z286A_HUMAN	zinc finger protein 286	348	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		TCAGTTGATTCATACTGGAGT	0.368													21	36					0	0	0.003330	0	0
NCOR1	9611	broad.mit.edu	37	17	16097819	16097819	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:16097819G>A	uc002gpo.2	-	2	305	c.65C>T	c.(64-66)CCT>CTT	p.P22L	NCOR1_uc002gpn.2_Missense_Mutation_p.P22L|NCOR1_uc002gpp.1_Missense_Mutation_p.P22L|NCOR1_uc002gpr.2_Missense_Mutation_p.P22L|NCOR1_uc002gps.1_Missense_Mutation_p.P22L|NCOR1_uc010coz.1_5'UTR|NCOR1_uc010cpb.1_Missense_Mutation_p.P22L|NCOR1_uc010cpa.1_Missense_Mutation_p.P22L|NCOR1_uc002gpu.2_Missense_Mutation_p.P22L	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	22	Interaction with ZBTB33 and HEXIM1.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GACAGAGTGAGGAGGATAACG	0.423													6	21					0	0	0.003080	0	0
Unknown	0	broad.mit.edu	37	17	16722222	16722222	+	RNA	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:16722222G>A	uc002gqq.1	-	5		c.1509C>T								full-length cDNA clone CS0DI013YN06 of Placenta Cot 25-normalized of Homo sapiens (human).																		AGAGTGCCATGGTGGGGCGGA	0.597													5	6					0	0	0.000602	0	0
RASD1	51655	broad.mit.edu	37	17	17398471	17398471	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:17398471C>T	uc002gri.2	-	2	1026	c.814G>A	c.(814-816)GCC>ACC	p.A272T		NM_016084	NP_057168	Q9Y272	RASD1_HUMAN	RAS, dexamethasone-induced 1 precursor	272					G-protein coupled receptor protein signaling pathway|small GTPase mediated signal transduction	nucleus|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity				0						TTGTCCTTGGCCTGGCTGCCG	0.652													7	25					0	0	0.003080	0	0
RAI1	10743	broad.mit.edu	37	17	17700174	17700174	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:17700174C>T	uc002grm.2	+	3	4381	c.3912C>T	c.(3910-3912)CTC>CTT	p.L1304L	RAI1_uc002grn.1_Silent_p.L1304L	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1304						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		GCCTCAAGCTCGCCTCTCGGG	0.642													14	54					0	0	0.001855	0	0
TOP3A	7156	broad.mit.edu	37	17	18196105	18196105	+	Silent	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:18196105A>G	uc002gsx.1	-	11	1364	c.1135T>C	c.(1135-1137)TTG>CTG	p.L379L	TOP3A_uc010cpz.1_5'Flank|TOP3A_uc010vxr.1_Intron|TOP3A_uc002gsw.1_Intron|TOP3A_uc010vxs.1_Silent_p.L277L	NM_004618	NP_004609	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	379					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			skin(3)	3						TGTTCCACCAACACCGTCAGG	0.512													15	48					0	0	0.004007	0	0
FBXW10	10517	broad.mit.edu	37	17	18668146	18668146	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:18668146G>T	uc002guk.2	+	8	1757	c.1525G>T	c.(1525-1527)GTA>TTA	p.V509L	FBXW10_uc002guj.2_Missense_Mutation_p.V509L|FBXW10_uc002gul.2_Missense_Mutation_p.V538L|FBXW10_uc010cqh.1_Missense_Mutation_p.V509L	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN	F-box and WD-40 domain protein 10	509	WD 4.									ovary(1)	1						GAACAGGCTCGTATCTGGAGG	0.463													29	55					1.4709e-25	1.93042e-25	0.003610	1	0
MAPK7	5598	broad.mit.edu	37	17	19284546	19284546	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:19284546C>T	uc002gvn.2	+	4	1410	c.1024C>T	c.(1024-1026)CTT>TTT	p.L342F	MAPK7_uc002gvo.2_Missense_Mutation_p.L203F|MAPK7_uc002gvq.2_Missense_Mutation_p.L342F|MAPK7_uc002gvp.2_Missense_Mutation_p.L342F	NM_139033	NP_620602	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7 isoform 1	342	Necessary for oligomerization (By similarity).|Protein kinase.				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			central_nervous_system(4)|lung(3)|stomach(1)|skin(1)	9	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					AGCTGCTGCCCTTCGCCACCC	0.617													10	41					0	0	0.000978	0	0
SLC47A1	55244	broad.mit.edu	37	17	19451383	19451383	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:19451383G>A	uc002gvy.1	+	4	478	c.392G>A	c.(391-393)TGG>TAG	p.W131*	SLC47A1_uc010vyy.1_RNA|SLC47A1_uc002gvx.2_Nonsense_Mutation_p.W131*|SLC47A1_uc010vyz.1_Nonsense_Mutation_p.W108*|SLC47A1_uc010cqp.1_Nonsense_Mutation_p.W131*|SLC47A1_uc010cqq.1_5'UTR	NM_018242	NP_060712	Q96FL8	S47A1_HUMAN	solute carrier family 47, member 1	131	Helical; (Potential).					integral to membrane|plasma membrane	drug:hydrogen antiporter activity				0	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					TTCCCCTGCTGGGCGCTCTTT	0.622													10	24					0	0	0.006214	0	0
LGALS9	3965	broad.mit.edu	37	17	25974437	25974437	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:25974437C>T	uc002gzp.2	+	10	1018	c.900C>T	c.(898-900)TTC>TTT	p.F300F	LGALS9_uc002gzq.2_Silent_p.F268F|LGALS9_uc002gzr.2_Silent_p.F211F|LGALS9_uc010waa.1_Intron|LGALS9_uc002gzs.2_Intron	NM_009587	NP_033665	O00182	LEG9_HUMAN	galectin-9 isoform long	300	Galectin 2.				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity				0	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		AAATGCCCTTCGTCCGTGGCC	0.587													7	7					0	0	0.001984	0	0
SARM1	23098	broad.mit.edu	37	17	26686008	26686008	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:26686008C>T	uc010wah.1	+	2	288	c.281C>T	c.(280-282)CCA>CTA	p.P94L	POLDIP2_uc002haz.2_5'Flank|POLDIP2_uc010wag.1_5'Flank|TMEM199_uc002hba.2_Missense_Mutation_p.P94L	NM_152464	NP_689677	Q6SZW1	SARM1_HUMAN	transmembrane protein 199	Error:Variant_position_missing_in_Q6SZW1_after_alignment					innate immune response	cytoplasm|intrinsic to membrane	binding|transmembrane receptor activity				0	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		GTGAAGCCTCCACGGGTATGT	0.398													18	31					0	0	0.007413	0	0
KIAA0100	9703	broad.mit.edu	37	17	26965064	26965064	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:26965064G>A	uc002hbu.2	-	14	1660	c.1561C>T	c.(1561-1563)CTT>TTT	p.L521F		NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	521						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					TCAAGAAAAAGGGTATCTGAC	0.493													19	19					0	0	0.008871	0	0
SUPT6H	6830	broad.mit.edu	37	17	27011718	27011718	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:27011718C>T	uc002hby.2	+	18	2434	c.2344C>T	c.(2344-2346)CTC>TTC	p.L782F	SUPT6H_uc010crt.2_Missense_Mutation_p.L782F	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	782					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Lung NSC(42;0.00431)					CATTCGAGTCCTCGGCATTGC	0.478													16	53					0	0	0.006122	0	0
GIT1	28964	broad.mit.edu	37	17	27902103	27902103	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:27902103G>A	uc002hef.2	-	19	2281	c.2067C>T	c.(2065-2067)TTC>TTT	p.F689F	GIT1_uc002heg.2_Silent_p.F698F|GIT1_uc010wbg.1_Silent_p.F675F|GIT1_uc010csb.1_Silent_p.F689F	NM_014030	NP_054749	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interactor 1	689	Interaction with PXN and TGFB1I1 (By similarity).				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding				0				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		GTACCTTTGGGAAGAGGGAGG	0.607													12	27					0	0	0.002450	0	0
CCDC55	84081	broad.mit.edu	37	17	28505103	28505103	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:28505103C>T	uc002heu.2	+	4	214	c.186C>T	c.(184-186)ATC>ATT	p.I62I	CCDC55_uc002hev.2_Silent_p.I8I|CCDC55_uc010wbl.1_Silent_p.I8I|CCDC55_uc010wbm.1_Silent_p.I8I|CCDC55_uc002hex.2_Silent_p.I8I	NM_032141	NP_115517	Q9H0G5	NSRP1_HUMAN	coiled-coil domain containing 55 isoform 1	62					developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome	nuclear speck|ribonucleoprotein complex	mRNA binding|protein binding				0						AACTGGAAATCCAGAAGGCCC	0.323													24	40					0	0	0.003330	0	0
ADAP2	55803	broad.mit.edu	37	17	29276332	29276332	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:29276332C>T	uc002hfx.2	+	7	964	c.685C>T	c.(685-687)CGT>TGT	p.R229C	ADAP2_uc010csk.2_Missense_Mutation_p.R235C|ADAP2_uc002hfy.2_Missense_Mutation_p.R229C|ADAP2_uc010csl.2_RNA	NM_018404	NP_060874	Q9NPF8	ADAP2_HUMAN	centaurin-alpha 2 protein	229	PH 1.				heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	p.?(1)		ovary(1)	1						CAATGCCCTCCGTGCAGCCCG	0.557													30	45					0	0	0.004289	0	0
SLFN12L	342615	broad.mit.edu	37	17	33807092	33807092	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:33807092C>T	uc002hjn.2	-	3	1103	c.224G>A	c.(223-225)AGA>AAA	p.R75K		NM_001145027	NP_001138499			schlafen family member 12-like											ovary(1)	1						CATTTTTTTTCTATTGTTCTC	0.423													7	5					0	0	0.003080	0	0
ACACA	31	broad.mit.edu	37	17	35557126	35557126	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:35557126C>T	uc002hnm.2	-	35	4194	c.4003G>A	c.(4003-4005)GAT>AAT	p.D1335N	ACACA_uc002hnk.2_Missense_Mutation_p.D1257N|ACACA_uc002hnl.2_Missense_Mutation_p.D1277N|ACACA_uc002hnn.2_Missense_Mutation_p.D1335N|ACACA_uc002hno.2_Missense_Mutation_p.D1372N|ACACA_uc010cuy.2_Missense_Mutation_p.D29N	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	1335					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)	TTTCTGAAATCCTTTCAAATA	0.318													26	49					0	0	0.005443	0	0
ACACA	31	broad.mit.edu	37	17	35640208	35640208	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:35640208G>A	uc002hnm.2	-	5	650	c.459C>T	c.(457-459)TTC>TTT	p.F153F	ACACA_uc002hnk.2_Silent_p.F75F|ACACA_uc002hnl.2_Silent_p.F95F|ACACA_uc002hnn.2_Silent_p.F153F|ACACA_uc002hno.2_Silent_p.F190F|ACACA_uc010cuz.2_Silent_p.F153F|ACACA_uc002hnq.2_Silent_p.F75F	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	153	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)	CCATGACAACGAATCTAATTG	0.413													14	37					0	0	0.004007	0	0
SYNRG	11276	broad.mit.edu	37	17	35930926	35930926	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:35930926G>A	uc002hoa.2	-	10	1240	c.1157C>T	c.(1156-1158)CCA>CTA	p.P386L	SYNRG_uc010wde.1_Missense_Mutation_p.P308L|SYNRG_uc010wdf.1_Missense_Mutation_p.P308L|SYNRG_uc002hoc.2_Missense_Mutation_p.P307L|SYNRG_uc002hoe.2_Missense_Mutation_p.P308L|SYNRG_uc002hod.2_Missense_Mutation_p.P308L|SYNRG_uc010wdg.1_Intron|SYNRG_uc002hob.2_Missense_Mutation_p.P386L|SYNRG_uc002hof.2_Missense_Mutation_p.P98L|SYNRG_uc010cvd.1_Missense_Mutation_p.P186L|SYNRG_uc002hog.1_Missense_Mutation_p.P520L	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN	synergin, gamma isoform 1	386	EH.				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			ovary(2)	2						ACTTAAAGTTGGAATAGGAGC	0.488													50	63					0	0	0.003610	0	0
DDX52	11056	broad.mit.edu	37	17	35981555	35981555	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:35981555G>A	uc002hoi.1	-	10	1276	c.1238C>T	c.(1237-1239)CCA>CTA	p.P413L	DDX52_uc002hoh.1_Missense_Mutation_p.P305L	NM_007010	NP_008941	Q9Y2R4	DDX52_HUMAN	ATP-dependent RNA helicase ROK1 isoform a	413	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)|skin(1)	2		Breast(25;0.00637)|Ovarian(249;0.15)				AAGAACAGGTGGATTGAAACC	0.323													12	19					0	0	0.003163	0	0
GPR179	440435	broad.mit.edu	37	17	36485943	36485943	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:36485943C>T	uc002hpz.2	-	11	3530	c.3509G>A	c.(3508-3510)CGG>CAG	p.R1170Q		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1 precursor	1170	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GCTGCCCTCCCGTTGACAGAC	0.577													55	82					0	0	0.003610	0	0
MLLT6	4302	broad.mit.edu	37	17	36872948	36872948	+	Silent	SNP	T	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:36872948T>G	uc002hqi.3	+	10	1378	c.1365T>G	c.(1363-1365)GCT>GCG	p.A455A	MLLT6_uc002hqj.2_Intron|MLLT6_uc002hqk.3_5'Flank	NM_005937	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	455					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|prostate(1)|lung(1)|skin(1)	6	Breast(7;4.43e-21)					CTGTGCCTGCTGATGAGACCC	0.652			T	MLL	AL								5	10					0	0	0.001168	0	0
MLLT6	4302	broad.mit.edu	37	17	36873770	36873770	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:36873770C>T	uc002hqi.3	+	11	1750	c.1737C>T	c.(1735-1737)CTC>CTT	p.L579L	MLLT6_uc002hqj.2_Silent_p.L14L|MLLT6_uc002hqk.3_5'Flank	NM_005937	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	579					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|prostate(1)|lung(1)|skin(1)	6	Breast(7;4.43e-21)					CCTCCAGCCTCCTGGGGCCCC	0.652			T	MLL	AL								9	20					0	0	0.008291	0	0
Unknown	0	broad.mit.edu	37	17	37187776	37187776	+	RNA	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:37187776C>T	uc002hrd.1	+	1		c.1618C>T								Homo sapiens cDNA FLJ43826 fis, clone TESTI4002703.																		ATTCTACACCCCTGAAGAAGA	0.493													23	91					0	0	0.003330	0	0
PGAP3	93210	broad.mit.edu	37	17	37829086	37829086	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:37829086C>T	uc002hsj.2	-	8	976	c.933G>A	c.(931-933)AAG>AAA	p.K311K	PGAP3_uc010cvy.2_RNA|PGAP3_uc010wej.1_Silent_p.K290K|PGAP3_uc002hsk.2_Silent_p.K260K|PGAP3_uc010cvz.2_3'UTR	NM_033419	NP_219487	Q96FM1	PGAP3_HUMAN	per1-like domain containing 1 precursor	311	Cytoplasmic (Potential).				GPI anchor biosynthetic process	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	hydrolase activity, acting on ester bonds			upper_aerodigestive_tract(1)	1						CCTCTGATTCCTTCAGCAGGT	0.592													17	31					0	0	0.002299	0	0
KRT26	353288	broad.mit.edu	37	17	38926621	38926621	+	Missense_Mutation	SNP	C	T	T	rs117795478	byFrequency	TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:38926621C>T	uc002hvf.2	-	3	611	c.565G>A	c.(565-567)GAC>AAC	p.D189N		NM_181539	NP_853517	Q7Z3Y9	K1C26_HUMAN	keratin 26	189	Rod.|Coil 1B.					intermediate filament	structural molecule activity				0		Breast(137;0.00526)				CCACTGGTGTCGGCCTCAACA	0.493													12	60					0	0	0.002450	0	0
KRT12	3859	broad.mit.edu	37	17	39022967	39022967	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:39022967G>A	uc002hvk.2	-	1	496	c.472C>T	c.(472-474)CGA>TGA	p.R158*		NM_000223	NP_000214	Q99456	K1C12_HUMAN	keratin 12	158	Rod.|Coil 1A.				visual perception	intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)				TACCATTCTCGAATTTTATTT	0.388													26	96					0	0	0.003954	0	0
KRTAP1-1	81851	broad.mit.edu	37	17	39197225	39197225	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:39197225G>A	uc002hvw.1	-	1	489	c.425C>T	c.(424-426)TCC>TTC	p.S142F		NM_030967	NP_112229	Q07627	KRA11_HUMAN	keratin associated protein 1-1	142						extracellular region|keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CTGGCAGCAGGATGGGGGTGT	0.672													11	12					0	0	0.001368	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39261852	39261852	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:39261852A>G	uc010wfp.1	+	1	212	c.212A>G	c.(211-213)CAG>CGG	p.Q71R		NM_001146041	NP_001139513	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	71	9.|29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].		Missing (in allele KAP.9-v1).			keratin filament					0						AGCTGCTGTCAGACCACCTGT	0.652													4	17					0	0	0.000248	0	0
KRTAP4-3	85290	broad.mit.edu	37	17	39323977	39323977	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:39323977A>C	uc010cxl.2	-	1	448	c.448T>G	c.(448-450)TGC>GGC	p.C150G		NM_033187	NP_149443	Q9BYR4	KRA43_HUMAN	keratin associated protein 4-3	150	23.|29 X 5 AA repeats of C-C-[GIKRQVH]-[SPT]- [STA].					keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GCCGGGCGGCAGCAGGAGGGC	0.627													4	6					0	0	0.000248	0	0
KRT32	3882	broad.mit.edu	37	17	39623313	39623313	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:39623313C>T	uc002hwr.2	-	1	326	c.265G>A	c.(265-267)GAA>AAA	p.E89K		NM_002278	NP_002269	Q14532	K1H2_HUMAN	keratin 32	89	Head.				epidermis development	intermediate filament	protein binding|structural molecule activity				0		Breast(137;0.000812)				AAGGCCCCTTCGCTGTACCAG	0.612													40	41					0	0	0.006230	0	0
KRT36	8689	broad.mit.edu	37	17	39645717	39645717	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:39645717G>A	uc002hwt.2	-	1	400	c.400C>T	c.(400-402)CCA>TCA	p.P134S		NM_003771	NP_003762	O76013	KRT36_HUMAN	keratin 36	134	Rod.|Linker 1.					intermediate filament	protein binding|structural constituent of epidermis				0		Breast(137;0.000286)				CAGATGTATGGGATCTGAAAC	0.582													25	86					0	0	0.006320	0	0
KRT36	8689	broad.mit.edu	37	17	39646091	39646091	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:39646091G>A	uc002hwt.2	-	1	26	c.26C>T	c.(25-27)ACC>ATC	p.T9I		NM_003771	NP_003762	O76013	KRT36_HUMAN	keratin 36	9	Head.					intermediate filament	protein binding|structural constituent of epidermis				0		Breast(137;0.000286)				AGTGGAGAAGGTAGGGGTGCA	0.592													11	31					0	0	0.001855	0	0
KRT15	3866	broad.mit.edu	37	17	39672365	39672365	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:39672365G>A	uc002hwy.2	-	4	1082	c.891C>T	c.(889-891)TTC>TTT	p.F297F	KRT15_uc002hwz.2_Silent_p.F199F|KRT15_uc002hxa.2_Silent_p.F132F|KRT15_uc002hxb.1_Silent_p.F132F	NM_002275	NP_002266	P19012	K1C15_HUMAN	keratin 15	297	Rod.|Coil 2.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton				0		Breast(137;0.000286)				CCTTGCTGAAGAACCAGGCCT	0.637													34	57					0	0	0.003755	0	0
KLHL11	55175	broad.mit.edu	37	17	40010862	40010862	+	Silent	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:40010862A>G	uc002hyf.1	-	2	1263	c.1257T>C	c.(1255-1257)TTT>TTC	p.F419F		NM_018143	NP_060613	Q9NVR0	KLH11_HUMAN	kelch-like 11 precursor	419	Kelch 2.					extracellular region					0		Breast(137;0.00156)				CAGTTTTAGCAAACCCTGGCT	0.398													26	64					0	0	0.008361	0	0
KCNH4	23415	broad.mit.edu	37	17	40322266	40322266	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:40322266C>T	uc002hzb.2	-	8	1582	c.1249G>A	c.(1249-1251)GTG>ATG	p.V417M		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H,	417	Extracellular (Potential).				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			large_intestine(1)	1		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGGCCGCCCACCGAGCCATTG	0.632													6	19					0	0	0.004482	0	0
STAT3	6774	broad.mit.edu	37	17	40475291	40475291	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:40475291G>A	uc002hzl.1	-	19	1975	c.1735C>T	c.(1735-1737)CTT>TTT	p.L579F	STAT3_uc002hzk.1_Missense_Mutation_p.L579F|STAT3_uc002hzm.1_Missense_Mutation_p.L579F|STAT3_uc010wgh.1_Missense_Mutation_p.L481F|STAT3_uc002hzn.1_Missense_Mutation_p.L579F	NM_139276	NP_644805	P40763	STAT3_HUMAN	signal transducer and activator of transcription	579					cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			ovary(1)|lung(1)|breast(1)|central_nervous_system(1)	4		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		TCGTTCCAAAGGGCCAGGATG	0.507									Hyperimmunoglobulin_E_Recurrent_Infection_Syndrome		OREG0024421	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	44	52					0	0	0.003610	0	0
ATP6V0A1	535	broad.mit.edu	37	17	40620096	40620096	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:40620096C>T	uc002hzr.2	+	4	432	c.265C>T	c.(265-267)CCC>TCC	p.P89S	ATP6V0A1_uc002hzq.2_Missense_Mutation_p.P89S|ATP6V0A1_uc002hzs.2_Missense_Mutation_p.P89S|ATP6V0A1_uc010wgj.1_Missense_Mutation_p.P89S|ATP6V0A1_uc010wgk.1_Missense_Mutation_p.P89S|ATP6V0A1_uc010cyg.2_Intron|ATP6V0A1_uc010wgl.1_5'Flank|ATP6V0A1_uc002hzp.1_Missense_Mutation_p.P89S	NM_001130021	NP_001123493	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	89	Cytoplasmic (Potential).				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			pancreas(1)	1		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		CCCAGAGGTTCCCTTCCCCCG	0.393													9	19					0	0	0.000978	0	0
FAM134C	162427	broad.mit.edu	37	17	40733942	40733942	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:40733942G>T	uc002ial.2	-	9	1393	c.1290C>A	c.(1288-1290)TTC>TTA	p.F430L	FAM134C_uc010wgq.1_Missense_Mutation_p.F230L|FAM134C_uc002iam.1_Missense_Mutation_p.F230L|FAM134C_uc010cyk.1_Missense_Mutation_p.F333L	NM_178126	NP_835227	Q86VR2	F134C_HUMAN	hypothetical protein LOC162427	430						integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.134)		GGGACCGGAGGAAGCCTCTCG	0.602													10	25					2.17888e-05	2.82391e-05	0.006214	1	0
CNTNAP1	8506	broad.mit.edu	37	17	40837272	40837272	+	Silent	SNP	C	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:40837272C>A	uc002iay.2	+	5	765	c.549C>A	c.(547-549)ATC>ATA	p.I183I	CNTNAP1_uc010wgs.1_RNA	NM_003632	NP_003623	P78357	CNTP1_HUMAN	contactin associated protein 1 precursor	183	Extracellular (Potential).				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1)	8		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		ACGATGCCATCTCCTACCGCT	0.652													17	40					2.37509e-13	3.10555e-13	0.001523	1	0
AOC3	8639	broad.mit.edu	37	17	41004751	41004751	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:41004751C>T	uc002ibv.2	+	1	1551	c.1391C>T	c.(1390-1392)TCT>TTT	p.S464F		NM_003734	NP_003725	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3 precursor	464	Extracellular (Potential).				amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			central_nervous_system(2)|ovary(1)|skin(1)	4		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	GTCGTCAGATCTATGTCCACC	0.547													30	35					0	0	0.008361	0	0
NBR1	4077	broad.mit.edu	37	17	41343547	41343548	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:41343547_41343548CC>TT	uc010czd.2	+	10	1162_1163	c.1022_1023CC>TT	c.(1021-1023)CCC>CTT	p.P341L	NBR1_uc010diz.2_Missense_Mutation_p.P341L|NBR1_uc010whu.1_Missense_Mutation_p.P341L|NBR1_uc010whv.1_Missense_Mutation_p.P341L|NBR1_uc010whw.1_Missense_Mutation_p.P320L|NBR1_uc010whx.1_Missense_Mutation_p.P150L	NM_031862	NP_114068	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	341					macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			skin(1)	1		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		CTCCAGAGCCCCAAGTCTCCTT	0.485													6	9					0	0	0.004672	0	0
DHX8	1659	broad.mit.edu	37	17	41584372	41584372	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:41584372C>T	uc002idu.1	+	13	1803	c.1730C>T	c.(1729-1731)GCC>GTC	p.A577V	DHX8_uc010wif.1_Missense_Mutation_p.A486V|DHX8_uc010wig.1_Missense_Mutation_p.A577V	NM_004941	NP_004932	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	577	Helicase ATP-binding.					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(2)|kidney(1)|pancreas(1)	4		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		TGCTTTCAGGCCGTCCATGAC	0.393													12	27					0	0	0.001855	0	0
MPP3	4356	broad.mit.edu	37	17	41891596	41891596	+	Silent	SNP	G	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:41891596G>T	uc002iei.3	-	15	1309	c.1143C>A	c.(1141-1143)CCC>CCA	p.P381P	MPP3_uc002ieh.2_Silent_p.P406P|MPP3_uc002iej.2_RNA	NM_001932	NP_001923	Q13368	MPP3_HUMAN	palmitoylated membrane protein 3	381					signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			large_intestine(1)|skin(1)	2		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		GCCGCTCTCCGGGCTGGTGTT	0.622													40	97					3.05275e-18	3.99754e-18	0.003214	1	0
SLC4A1	6521	broad.mit.edu	37	17	42330504	42330504	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:42330504G>T	uc002igf.3	-	17	2442	c.2293C>A	c.(2293-2295)CTG>ATG	p.L765M		NM_000342	NP_000333	P02730	B3AT_HUMAN	solute carrier family 4, anion exchanger, member	765	Helical; (Potential).|Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		ACAGCGACCAGGAGTCCACTG	0.637													6	47					0.00307968	0.00397534	0.003080	1	0
DBF4B	80174	broad.mit.edu	37	17	42828167	42828167	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:42828167G>C	uc002ihf.2	+	14	1607	c.1394G>C	c.(1393-1395)GGG>GCG	p.G465A	DBF4B_uc010wjc.1_Intron	NM_145663	NP_663696	Q8NFT6	DBF4B_HUMAN	DBF4 homolog B isoform 1	465					cell cycle	nucleus	nucleic acid binding|zinc ion binding				0		Prostate(33;0.0322)				CTGCTGCCTGGGGAGTGGTCG	0.627													3	48					0	0	0.004672	0	0
C17orf46	124783	broad.mit.edu	37	17	43333199	43333199	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:43333199C>T	uc002iis.1	-	4	446	c.350G>A	c.(349-351)GGG>GAG	p.G117E	LOC100133991_uc010dah.2_Intron|C17orf46_uc010wjk.1_Missense_Mutation_p.G96E	NM_152343	NP_689556	Q96LK8	CQ046_HUMAN	hypothetical protein LOC124783	117										large_intestine(1)|ovary(1)	2						CGTGGGCAGCCCCATGTTGGA	0.552													47	87					0	0	0.003610	0	0
PLEKHM1	9842	broad.mit.edu	37	17	43531545	43531545	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:43531545G>A	uc002ija.2	-	7	1843	c.1673C>T	c.(1672-1674)TCC>TTC	p.S558F	PLEKHM1_uc010wjm.1_Missense_Mutation_p.S530F|PLEKHM1_uc002ijb.2_Missense_Mutation_p.S33F|PLEKHM1_uc010wjn.1_Missense_Mutation_p.S507F|PLEKHM1_uc002ijc.2_Missense_Mutation_p.S12F	NM_014798	NP_055613	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M	558	PH 1.				intracellular signal transduction	cytoplasm	metal ion binding				0	Renal(3;0.0405)					CTCCAGCGGGGAGAGCTCGCA	0.627													6	9					0	0	0.001984	0	0
PLEKHM1	9842	broad.mit.edu	37	17	43535769	43535770	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:43535769_43535770GG>AA	uc002ija.2	-	6	1514_1515	c.1344_1345CC>TT	c.(1342-1347)TACCGG>TATTGG	p.R449W	PLEKHM1_uc010wjm.1_Missense_Mutation_p.R421W|PLEKHM1_uc002ijb.2_5'UTR|PLEKHM1_uc010wjn.1_Missense_Mutation_p.R398W|PLEKHM1_uc002ijc.2_Intron	NM_014798	NP_055613	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M	449					intracellular signal transduction	cytoplasm	metal ion binding				0	Renal(3;0.0405)					CGGGAAGGCCGGTAGAAGTCAT	0.421													5	21					0	0	0.004672	0	0
LRRC37A2	474170	broad.mit.edu	37	17	44626153	44626153	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:44626153G>A	uc002ikn.1	+	9	3651	c.3648G>A	c.(3646-3648)CAG>CAA	p.Q1216Q	ARL17A_uc002iko.3_Intron|LRRC37A2_uc002ikq.1_Silent_p.Q177Q|LRRC37A2_uc010dax.1_Silent_p.Q146Q	NM_001006607	NP_001006608	A6NM11	L37A2_HUMAN	c114 SLIT-like testicular protein precursor	1216	Extracellular (Potential).					integral to membrane					0		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		AGGTGGAACAGCCCCACACAC	0.587													31	173					0	0	0.004289	0	0
NFE2L1	4779	broad.mit.edu	37	17	46136643	46136644	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:46136643_46136644CC>TT	uc002imz.3	+	6	2610_2611	c.1959_1960CC>TT	c.(1957-1962)AGCCTC>AGTTTC	p.L654F	NFE2L1_uc002ina.3_Missense_Mutation_p.L624F|NFE2L1_uc002inb.3_Missense_Mutation_p.L624F|NFE2L1_uc010wle.1_Missense_Mutation_p.L466F|NFE2L1_uc010wlf.1_Missense_Mutation_p.L498F	NM_003204	NP_003195	Q14494	NF2L1_HUMAN	nuclear factor erythroid 2-like 1	654					anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			skin(1)	1						CCCAGCTGAGCCTCATCCGAGA	0.545													16	24					0	0	0.004672	0	0
HOXB1	3211	broad.mit.edu	37	17	46606983	46606983	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:46606983C>T	uc002ink.1	-	2	838	c.832G>A	c.(832-834)GAG>AAG	p.E278K		NM_002144	NP_002135	P14653	HXB1_HUMAN	homeobox B1	278						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						CCAGCTGCCTCCTTGGGGCAG	0.602													14	60					0	0	0.004990	0	0
HOXB3	3213	broad.mit.edu	37	17	46628315	46628315	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:46628315T>C	uc002inn.2	-	2	1077	c.677A>G	c.(676-678)AAC>AGC	p.N226S	HOXB3_uc010wlm.1_Missense_Mutation_p.N153S|HOXB3_uc010dbf.2_Missense_Mutation_p.N226S|HOXB3_uc010dbg.2_Missense_Mutation_p.N226S|HOXB3_uc002ino.2_Missense_Mutation_p.N226S|HOXB3_uc010wlk.1_Missense_Mutation_p.N94S|HOXB3_uc010wll.1_Missense_Mutation_p.N153S	NM_002146	NP_002137	P14651	HXB3_HUMAN	homeobox B3	226	Homeobox.				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						CTCGCTGAGGTTCAGCAGGTT	0.607													21	69					0	0	0.003954	0	0
HOXB13	10481	broad.mit.edu	37	17	46805802	46805802	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:46805802C>T	uc002ioa.2	-	1	310	c.154G>A	c.(154-156)GAT>AAT	p.D52N		NM_006361	NP_006352	Q92826	HXB13_HUMAN	homeobox B13	52					angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						CCTGGCAGATCCAAGGGGGCA	0.677													22	53					0	0	0.002299	0	0
COL1A1	1277	broad.mit.edu	37	17	48267439	48267439	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:48267439C>T	uc002iqm.2	-	36	2608	c.2482G>A	c.(2482-2484)GAA>AAA	p.E828K		NM_000088	NP_000079	P02452	CO1A1_HUMAN	alpha 1 type I collagen preproprotein	828	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(372)	soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1)	382					Collagenase(DB00048)|Palifermin(DB00039)	TCACCAGGTTCGCCTTTAGCA	0.657			T	PDGFB|USP6	dermatofibrosarcoma protuberans|aneurysmal bone cyst 		Osteogenesis imperfecta						18	51					0	0	0.007413	0	0
EME1	146956	broad.mit.edu	37	17	48458281	48458281	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:48458281C>T	uc002iqs.1	+	9	1767	c.1694C>T	c.(1693-1695)TCT>TTT	p.S565F	EME1_uc010dbp.1_Missense_Mutation_p.S578F|EME1_uc010dbq.1_RNA|uc010wmk.1_5'Flank	NM_152463	NP_689676	Q96AY2	EME1_HUMAN	essential meiotic endonuclease 1 homolog 1	565					DNA recombination|DNA repair	nucleolus	DNA binding|endonuclease activity|metal ion binding|protein binding				0	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			CCACATCTCTCTTTAGATAGT	0.507								Direct_reversal_of_damage|Homologous_recombination					17	37					0	0	0.007413	0	0
ANKFN1	162282	broad.mit.edu	37	17	54535305	54535305	+	Missense_Mutation	SNP	C	T	T	rs145812649	by1000genomes	TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:54535305C>T	uc002iun.1	+	13	1566	c.1531C>T	c.(1531-1533)CGG>TGG	p.R511W		NM_153228	NP_694960	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain	511										large_intestine(1)|ovary(1)	2						GCTGCAAACTCGGCAGAAGAT	0.463													10	30					0	0	0.008291	0	0
COIL	8161	broad.mit.edu	37	17	55027768	55027768	+	Silent	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:55027768A>G	uc002iuu.2	-	2	866	c.835T>C	c.(835-837)TTA>CTA	p.L279L		NM_004645	NP_004636	P38432	COIL_HUMAN	coilin	279						Cajal body|nucleolus	protein C-terminus binding			ovary(1)	1	Breast(9;6.15e-08)					TCCTTTGATAACTCAGTTGGT	0.448													33	57					0	0	0.003755	0	0
OR4D2	124538	broad.mit.edu	37	17	56247444	56247444	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:56247444G>A	uc010wnp.1	+	1	428	c.428G>A	c.(427-429)GGG>GAG	p.G143E		NM_001004707	NP_001004707	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D,	143	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2						CTCTGGGTGGGGCTGGTGGTA	0.582													9	44					0	0	0.004482	0	0
C17orf47	284083	broad.mit.edu	37	17	56621404	56621404	+	Silent	SNP	A	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:56621404A>C	uc002iwq.1	-	1	280	c.144T>G	c.(142-144)CCT>CCG	p.P48P		NM_001038704	NP_001033793	Q8NEP4	CQ047_HUMAN	hypothetical protein LOC284083	48										breast(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTCGGTGGGAAGGGTTCAGGG	0.552													11	32					0	0	0.000978	0	0
TRIM37	4591	broad.mit.edu	37	17	57181659	57181659	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:57181659T>A	uc002iwy.3	-	2	562	c.118A>T	c.(118-120)ATT>TTT	p.I40F	TRIM37_uc002iwz.3_Missense_Mutation_p.I40F|TRIM37_uc002ixa.3_5'UTR|TRIM37_uc010woc.1_Intron|uc002ixb.2_5'Flank	NM_001005207	NP_001005207	O94972	TRI37_HUMAN	tripartite motif-containing 37 protein	40	RING-type; degenerate.					perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			lung(2)|pancreas(2)|ovary(1)|skin(1)|breast(1)	7	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					CTTACCCTAATACAGCTGAAA	0.353									Mulibrey_Nanism				8	27					0	0	0.004482	0	0
PRR11	55771	broad.mit.edu	37	17	57262831	57262831	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:57262831C>T	uc002ixf.1	+	4	389	c.310C>T	c.(310-312)CCA>TCA	p.P104S	PRR11_uc002ixg.1_RNA	NM_018304	NP_060774	Q96HE9	PRR11_HUMAN	proline rich 11	104										ovary(2)	2	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					CACCATCTTTCCATCTCGTAT	0.353													15	54					0	0	0.004990	0	0
CLTC	1213	broad.mit.edu	37	17	57725728	57725728	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:57725728T>C	uc002ixq.1	+	4	1090	c.647T>C	c.(646-648)TTT>TCT	p.F216S	CLTC_uc002ixp.2_Missense_Mutation_p.F216S|CLTC_uc002ixr.1_Missense_Mutation_p.F220S	NM_004859	NP_004850	Q00610	CLH1_HUMAN	clathrin heavy chain 1	216	Globular terminal domain.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1)	48	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TCAACGTTATTTTGTTTTGCA	0.393			T	ALK|TFE3	ALCL|renal 								45	77					0	0	0.003610	0	0
PTRH2	51651	broad.mit.edu	37	17	57774890	57774890	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:57774890C>T	uc002ixt.2	-	2	575	c.450G>A	c.(448-450)CAG>CAA	p.Q150Q	PTRH2_uc002ixs.2_RNA	NM_016077	NP_057161	Q9Y3E5	PTH2_HUMAN	Bcl-2 inhibitor of transcription precursor	150					apoptosis|translation	mitochondrion	aminoacyl-tRNA hydrolase activity				0	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CTGGTGCAATCTGAGTACGTC	0.458													19	52					0	0	0.006122	0	0
APPBP2	10513	broad.mit.edu	37	17	58529386	58529386	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:58529386G>A	uc002iys.1	-	12	1647	c.1359C>T	c.(1357-1359)ATC>ATT	p.I453I	APPBP2_uc010ddl.1_Silent_p.I382I	NM_006380	NP_006371	Q92624	APBP2_HUMAN	amyloid beta precursor protein-binding protein	453	TPR 6.				intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding				0	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			GAATTGCTTTGATGTGCATTT	0.328													13	61					0	0	0.004990	0	0
BRIP1	83990	broad.mit.edu	37	17	59857760	59857760	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:59857760G>A	uc002izk.1	-	13	1938	c.1797C>T	c.(1795-1797)GCC>GCT	p.A599A	BRIP1_uc002izl.1_5'UTR	NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	599					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			ovary(1)	1						TATCTGAAAAGGCCTAAAAGA	0.219			F|N|Mis			AML|leukemia|breast		Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				45	68					0	0	0.003610	0	0
EFCAB3	146779	broad.mit.edu	37	17	60469323	60469323	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:60469323G>A	uc002izu.1	+	4	370	c.292G>A	c.(292-294)GAT>AAT	p.D98N	EFCAB3_uc010wpc.1_Missense_Mutation_p.D150N	NM_173503	NP_775774	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3 isoform b	98	EF-hand 2.|1 (Potential).						calcium ion binding			skin(1)	1			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			TGCTGATATTGATCGTGAGTC	0.333													29	83					0	0	0.007291	0	0
MRC2	9902	broad.mit.edu	37	17	60754832	60754832	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:60754832C>T	uc002jad.2	+	12	2439	c.2037C>T	c.(2035-2037)CTC>CTT	p.L679L	MRC2_uc010ddq.1_RNA	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	679	Extracellular (Potential).|C-type lectin 4.				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(1)|central_nervous_system(1)|skin(1)	3						ACACCAAACTCCGGTATTGCT	0.657													12	16					0	0	0.000978	0	0
MARCH10	162333	broad.mit.edu	37	17	60814024	60814024	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:60814024G>A	uc010ddr.2	-	6	1443	c.1205C>T	c.(1204-1206)TCG>TTG	p.S402L	MARCH10_uc002jag.3_Missense_Mutation_p.S402L|MARCH10_uc010dds.2_Missense_Mutation_p.S440L|MARCH10_uc002jah.2_Missense_Mutation_p.S401L|uc002jaj.1_RNA|uc002jak.2_RNA	NM_001100875	NP_001094345	Q8NA82	MARHA_HUMAN	ring finger protein 190	402							ligase activity|zinc ion binding				0						GGTGTCCCACGAAAGAGGGCT	0.512													30	38					0	0	0.002096	0	0
ACE	1636	broad.mit.edu	37	17	61568382	61568382	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:61568382G>A	uc002jau.1	+	18	2731	c.2709G>A	c.(2707-2709)TCG>TCA	p.S903S	ACE_uc002jav.1_Silent_p.S329S|ACE_uc010ddv.1_Silent_p.S130S|ACE_uc010wpj.1_Silent_p.S329S|ACE_uc002jaw.1_RNA|ACE_uc010wpk.1_Silent_p.S149S	NM_000789	NP_000780	P12821	ACE_HUMAN	angiotensin I converting enzyme 1 isoform 1	903	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)	CAGCCCCCTCGATGGACACCA	0.642													20	46					0	0	0.003954	0	0
SCN4A	6329	broad.mit.edu	37	17	62034642	62034642	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:62034642G>A	uc002jds.1	-	13	2333	c.2256C>T	c.(2254-2256)CTC>CTT	p.L752L		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	752	II.				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)	GGAAGACGATGAGGAAGGAGT	0.577													8	28					0	0	0.003080	0	0
SCN4A	6329	broad.mit.edu	37	17	62034811	62034811	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:62034811G>A	uc002jds.1	-	13	2164	c.2087C>T	c.(2086-2088)TCA>TTA	p.S696L		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	696	II.				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)	CGCCCCCACTGAATTGCCAAT	0.577													7	16					0	0	0.001984	0	0
POLG2	11232	broad.mit.edu	37	17	62481945	62481945	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:62481945G>A	uc002jei.2	-	5	1093	c.1010C>T	c.(1009-1011)TCT>TTT	p.S337F	POLG2_uc010deg.1_Missense_Mutation_p.S337F	NM_007215	NP_009146	Q9UHN1	DPOG2_HUMAN	DNA polymerase subunit gamma-2, mitochondrial	337					DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding			central_nervous_system(1)	1	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			CCCATTTACAGAGAGAACACA	0.373													36	47					0	0	0.002222	0	0
CCDC45	90799	broad.mit.edu	37	17	62504836	62504836	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:62504836C>T	uc002jem.2	+	2	204	c.146C>T	c.(145-147)CCA>CTA	p.P49L	CCDC45_uc002jen.2_RNA|CCDC45_uc010wqb.1_5'UTR|DDX5_uc010deh.2_5'Flank|DDX5_uc002jek.2_5'Flank|DDX5_uc002jej.2_5'Flank|DDX5_uc010wqa.1_5'Flank	NM_138363	NP_612372	Q96GE4	CEP95_HUMAN	coiled-coil domain containing 45	49						centrosome|spindle pole	protein binding				0	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			GAAAAGGTACCAGGTAAGAAT	0.294													27	125					0	0	0.008361	0	0
LRRC37A3	374819	broad.mit.edu	37	17	62893304	62893304	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:62893304G>A	uc002jey.2	-	3	603	c.72C>T	c.(70-72)CTC>CTT	p.L24L	LRRC37A3_uc010wqg.1_Intron|LRRC37A3_uc010wqf.1_Intron	NM_199340	NP_955372	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	24						integral to membrane					0						GCCACATAAGGAGGGGCCATG	0.632													18	164					0	0	0.001882	0	0
AXIN2	8313	broad.mit.edu	37	17	63533654	63533654	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:63533654G>A	uc002jfi.2	-	6	1789	c.1500C>T	c.(1498-1500)CTC>CTT	p.L500L	AXIN2_uc002jfh.2_Silent_p.L500L	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN	axin 2	500					cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			central_nervous_system(1)|skin(1)	2						CTTTGCCCCCGAGGAGGGGGC	0.677									Oligodontia_Ectodermal_Dysplasia_and_Colorectal_Polyp_syndrome				15	20					0	0	0.002450	0	0
ABCA9	10350	broad.mit.edu	37	17	66986042	66986042	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:66986042C>T	uc002jhu.2	-	30	4010	c.3867G>A	c.(3865-3867)CGG>CGA	p.R1289R	ABCA9_uc010dez.2_Silent_p.R1251R	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A, member 9	1289	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	Breast(10;1.47e-12)					CATATTCCTTCCGTAGACAGC	0.378													15	48					0	0	0.006122	0	0
ABCA9	10350	broad.mit.edu	37	17	67029972	67029972	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:67029972C>T	uc002jhu.2	-	9	1314	c.1171G>A	c.(1171-1173)GAT>AAT	p.D391N	ABCA9_uc010dez.2_Missense_Mutation_p.D391N	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A, member 9	391					transport	integral to membrane	ATP binding|ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	Breast(10;1.47e-12)					TGTGAAGAATCCAAGTGGGCA	0.284													62	124					0	0	0.003610	0	0
ABCA6	23460	broad.mit.edu	37	17	67080473	67080473	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:67080473C>T	uc002jhw.1	-	34	4459	c.4284G>A	c.(4282-4284)CTG>CTA	p.L1428L		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A, member 6	1428	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1)	7	Breast(10;5.65e-12)					GTGAGTTTCCCAGGAGGCTCA	0.527													27	42					0	0	0.003954	0	0
CDC42EP4	23580	broad.mit.edu	37	17	71282116	71282117	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:71282116_71282117GG>AA	uc002jjn.2	-	2	670_671	c.523_524CC>TT	c.(523-525)CCT>TTT	p.P175F	CDC42EP4_uc002jjo.2_Missense_Mutation_p.P175F|CDC42EP4_uc002jjp.1_Missense_Mutation_p.P105F	NM_012121	NP_036253	Q9H3Q1	BORG4_HUMAN	Cdc42 effector protein 4	175					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding				0			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			GAGGGGGTCAGGGGAATGTGGA	0.663													9	25					0	0	0.004672	0	0
GPRC5C	55890	broad.mit.edu	37	17	72436201	72436201	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:72436201G>A	uc002jks.2	+	1	325	c.286G>A	c.(286-288)GGG>AGG	p.G96R	GPRC5C_uc002jkp.2_Missense_Mutation_p.G141R|GPRC5C_uc002jkq.2_Intron|GPRC5C_uc002jkr.2_Missense_Mutation_p.G108R|GPRC5C_uc002jkt.2_Missense_Mutation_p.G96R	NM_018653	NP_061123	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor family C, group 5,	96	Helical; Name=2; (Potential).					cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			ovary(2)|prostate(1)|central_nervous_system(1)|pancreas(1)	5						CTTCCTTCTGGGGACCCTGGG	0.597													32	42					0	0	0.002445	0	0
GRIN2C	2905	broad.mit.edu	37	17	72846716	72846716	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:72846716C>T	uc002jlt.1	-	5	1460	c.1304G>A	c.(1303-1305)AGG>AAG	p.R435K	GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_Missense_Mutation_p.R435K|GRIN2C_uc002jlv.1_3'UTR	NM_000835	NP_000826	Q14957	NMDE3_HUMAN	N-methyl-D-aspartate receptor subunit 2C	435	Extracellular (Potential).				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			ovary(2)|breast(2)	4	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	GTTGCTCTGCCTGCGGCAGGG	0.637													17	57					0	0	0.001882	0	0
OTOP3	347741	broad.mit.edu	37	17	72938000	72938000	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:72938000C>T	uc010wrr.1	+	3	495	c.495C>T	c.(493-495)TCC>TCT	p.S165S	OTOP3_uc010wrq.1_Silent_p.S147S	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN	otopetrin 3	165	Helical; (Potential).					integral to membrane|intracellular	zinc ion binding			ovary(1)	1	all_lung(278;0.151)|Lung NSC(278;0.185)					GGCCAGGTTCCCTAGTGCTCT	0.647													5	9					0	0	0.001168	0	0
RECQL5	9400	broad.mit.edu	37	17	73625355	73625355	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:73625355G>A	uc010dgl.2	-	16	2304	c.2148C>T	c.(2146-2148)GTC>GTT	p.V716V	RECQL5_uc010dgk.2_Silent_p.V689V|RECQL5_uc002jot.3_5'Flank	NM_004259	NP_004250	O94762	RECQ5_HUMAN	RecQ protein-like 5 isoform 1	716					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			kidney(3)	3	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			TGCCTCCAGGGACCTCCCCTC	0.692								Other_identified_genes_with_known_or_suspected_DNA_repair_function					6	16					0	0	0.001168	0	0
FBF1	85302	broad.mit.edu	37	17	73908303	73908303	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:73908303C>T	uc002jqc.2	-	28	3562	c.3288G>A	c.(3286-3288)AGG>AGA	p.R1096R	FBF1_uc002jqa.1_RNA|FBF1_uc010wsp.1_Silent_p.R1087R|MRPL38_uc002jpz.1_5'Flank|FBF1_uc002jqb.2_RNA|FBF1_uc010dgr.1_Silent_p.R406R	NM_001080542	NP_001074011	Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1	1096											0						GCAGTGCCAGCCTGGCATGGA	0.647													9	18					0	0	0.008291	0	0
RNF157	114804	broad.mit.edu	37	17	74154583	74154583	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:74154583C>T	uc002jqz.2	-	13	1374	c.1305_splice	c.e13-1	p.K435_splice	RNF157_uc002jra.2_Splice_Site_p.K435_splice	NM_052916	NP_443148	Q96PX1	RN157_HUMAN	ring finger protein 157								zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(166;0.187)			GGAAGTGGATCTGTAGGAGTC	0.468													25	45					0	0	0.003330	0	0
ST6GALNAC2	10610	broad.mit.edu	37	17	74566695	74566695	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:74566695G>A	uc002jsg.3	-	6	980	c.725C>T	c.(724-726)TCG>TTG	p.S242L		NM_006456	NP_006447	Q9UJ37	SIA7B_HUMAN	sialyltransferase 7B	242	Lumenal (Potential).				protein glycosylation	integral to Golgi membrane	sialyltransferase activity				0						CAGAATGGCCGATCTCAGCAT	0.587													12	19					0	0	0.004007	0	0
TMC8	147138	broad.mit.edu	37	17	76128889	76128889	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:76128889C>T	uc002jup.2	+	5	851	c.469C>T	c.(469-471)CGC>TGC	p.R157C	TMC6_uc002jul.1_5'Flank|TMC8_uc002juq.2_5'UTR|TMC8_uc010wtr.1_5'Flank	NM_152468	NP_689681	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	157	Lumenal (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)			CCCTGGTAGCCGCCAGTCCCC	0.587									Epidermodysplasia_Verruciformis_Familial_Clustering_of				19	57					0	0	0.003954	0	0
DNAH17	8632	broad.mit.edu	37	17	76421531	76421532	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:76421531_76421532GG>AA	uc010dhp.1	-	25	4258_4259	c.4036_4037CC>TT	c.(4036-4038)CCC>TTC	p.P1346F	DNAH17_uc002jvq.2_Missense_Mutation_p.P631F|DNAH17_uc002jvs.2_RNA					SubName: Full=DNAH17 variant protein; Flags: Fragment;											ovary(6)|breast(2)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CTTGTCCAGGGGCCACTCGTTC	0.594													21	50					0	0	0.004672	0	0
DNAH17	8632	broad.mit.edu	37	17	76503643	76503643	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:76503643C>T	uc010wtu.1	-	2	533	c.356G>A	c.(355-357)CGA>CAA	p.R119Q						full-length cDNA clone CS0DJ002YI14 of T cells (Jurkat cell line) Cot 10-normalized of Homo sapiens (human).											ovary(6)|breast(2)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCTCCAGGTTCGCTGGACCTC	0.592													6	21					0	0	0.001168	0	0
USP36	57602	broad.mit.edu	37	17	76799751	76799751	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:76799751C>T	uc002jvz.1	-	16	2851	c.2526G>A	c.(2524-2526)GGG>GGA	p.G842G	USP36_uc002jwa.1_Silent_p.G842G|USP36_uc002jwb.1_Silent_p.G454G|USP36_uc002jwc.1_Silent_p.G542G|USP36_uc002jvy.1_5'Flank	NM_025090	NP_079366	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	842					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)|breast(1)|kidney(1)	5			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			tcttcctcttcCCGTGGGGAG	0.577													6	12					0	0	0.001168	0	0
FLJ35220	284131	broad.mit.edu	37	17	78389004	78389004	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:78389004G>A	uc002jym.1	+	1	38	c.10G>A	c.(10-12)GAG>AAG	p.E4K	uc002jyi.1_5'Flank|FLJ35220_uc002jyj.1_Missense_Mutation_p.E4K|FLJ35220_uc002jyk.2_Missense_Mutation_p.E4K|FLJ35220_uc002jyl.1_Missense_Mutation_p.E4K|FLJ35220_uc002jyn.2_5'Flank	NM_173627	NP_775898	Q8N8Q3	ENDOV_HUMAN	hypothetical protein LOC284131 isoform 1	4					DNA repair		endodeoxyribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding				0	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			CATGGCCCTGGAGGCGGCGGG	0.711								Direct_reversal_of_damage|Editing_and_processing_nucleases					14	25					0	0	0.003163	0	0
SLC38A10	124565	broad.mit.edu	37	17	79220411	79220411	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:79220411C>T	uc002jzz.1	-	16	2680	c.2305G>A	c.(2305-2307)GCC>ACC	p.A769T	SLC38A10_uc002jzy.1_Missense_Mutation_p.A687T	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10 isoform a	769					amino acid transport|sodium ion transport	integral to membrane				pancreas(1)|skin(1)	2	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GTCTCCCTGGCCTTGCCTTCA	0.632													18	69					0	0	0.008871	0	0
TEX19	400629	broad.mit.edu	37	17	80320388	80320388	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:80320388C>T	uc002keq.2	+	2	671	c.362C>T	c.(361-363)CCC>CTC	p.P121L		NM_207459	NP_997342	Q8NA77	TEX19_HUMAN	testis expressed 19	121						nucleus					0						CACTTTGTCCCCACTGAACTA	0.637													25	50					0	0	0.007291	0	0
YES1	7525	broad.mit.edu	37	18	747963	747963	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:747963G>A	uc002kky.2	-	4	648	c.427C>T	c.(427-429)CCG>TCG	p.P143S	YES1_uc002kkz.2_Missense_Mutation_p.P143S	NM_005433	NP_005424	P07947	YES_HUMAN	viral oncogene yes-1 homolog 1	143	SH3.				blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|ovary(1)	3					Dasatinib(DB01254)	TAATTGCTCGGGATATAACCA	0.393													62	175					0	0	0.003610	0	0
DLGAP1	9229	broad.mit.edu	37	18	3879232	3879233	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:3879232_3879233CC>TT	uc002kmf.2	-	1	903_904	c.836_837GG>AA	c.(835-837)TGG>TAA	p.W279*	DLGAP1_uc010wyz.1_Nonsense_Mutation_p.W279*|DLGAP1_uc002kmk.2_Nonsense_Mutation_p.W279*|uc002kml.1_Intron	NM_004746	NP_004737	O14490	DLGP1_HUMAN	discs large homolog-associated protein 1 isoform	279					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				ovary(2)|pancreas(1)|skin(1)	4		Colorectal(8;0.0257)				GCGTGGAGGACCAGGCGCTCTT	0.644													16	29					0	0	0.004672	0	0
GNAL	2774	broad.mit.edu	37	18	11868595	11868595	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:11868595C>T	uc010dkz.2	+	10	979	c.733C>T	c.(733-735)CGA>TGA	p.R245*	GNAL_uc002kqc.2_Nonsense_Mutation_p.R322*|GNAL_uc002kqd.2_Nonsense_Mutation_p.R245*|GNAL_uc010wzt.1_Nonsense_Mutation_p.R38*	NM_001142339	NP_001135811	P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein),	245					activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			ovary(1)	1						CATGGTGATTCGAGAAGATAA	0.443													33	62					0	0	0.004289	0	0
TUBB6	84617	broad.mit.edu	37	18	12325201	12325201	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:12325201C>T	uc002kqw.2	+	4	458	c.413C>T	c.(412-414)TCG>TTG	p.S138L	TUBB6_uc002kqv.2_Missense_Mutation_p.S66L|TUBB6_uc010dld.2_RNA|TUBB6_uc002kqx.2_Missense_Mutation_p.S101L|TUBB6_uc002kqy.2_Intron	NM_032525	NP_115914	Q9BUF5	TBB6_HUMAN	tubulin, beta 6	138					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity				0				READ - Rectum adenocarcinoma(1;0.0649)		CTCACGCACTCGCTGGGCGGC	0.662													14	32					0	0	0.002450	0	0
POTEC	388468	broad.mit.edu	37	18	14524953	14524953	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:14524953C>T	uc010dln.2	-	7	1610	c.1156G>A	c.(1156-1158)GAG>AAG	p.E386K	POTEC_uc010xaj.1_Intron	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	ANKRD26-like family B, member 2	386										skin(3)	3						CTTTGTGACTCTTCCTCTGAT	0.299													19	62					0	0	0.001882	0	0
ABHD3	171586	broad.mit.edu	37	18	19239241	19239241	+	Silent	SNP	A	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:19239241A>C	uc002ktl.2	-	6	872	c.732T>G	c.(730-732)ACT>ACG	p.T244T	ABHD3_uc002ktm.2_Silent_p.T191T|ABHD3_uc010xao.1_RNA|ABHD3_uc002ktk.2_Silent_p.T49T|ABHD3_uc002ktn.2_Silent_p.T21T	NM_138340	NP_612213	Q8WU67	ABHD3_HUMAN	alpha/beta hydrolase domain containing protein	244						integral to membrane	carboxylesterase activity			central_nervous_system(1)	1						CAACGGAAAAAGTTGCAGCTG	0.408													25	47					0	0	0.005443	0	0
IMPACT	55364	broad.mit.edu	37	18	22023081	22023081	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:22023081C>T	uc002kvh.3	+	7	671	c.559C>T	c.(559-561)CAG>TAG	p.Q187*	IMPACT_uc002kvg.3_Nonsense_Mutation_p.Q169*	NM_018439	NP_060909	Q9P2X3	IMPCT_HUMAN	Impact homolog	187											0	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					AAGTACTTTTCAGGCACACTT	0.343													31	77					0	0	0.003271	0	0
AQP4	361	broad.mit.edu	37	18	24440749	24440749	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:24440749C>T	uc002kwa.2	-	4	743	c.680G>A	c.(679-681)TGG>TAG	p.W227*	AQP4_uc002kvz.2_Nonsense_Mutation_p.W205*	NM_001650	NP_001641	P55087	AQP4_HUMAN	aquaporin 4 isoform a	227	Extracellular (Potential).				cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity				0	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					ATGGTTTTCCCAATTTCCCAT	0.408													44	101					0	0	0.003610	0	0
DSC1	1823	broad.mit.edu	37	18	28714589	28714589	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:28714589G>A	uc002kwn.2	-	12	2084	c.1822C>T	c.(1822-1824)CAA>TAA	p.Q608*	DSC1_uc002kwm.2_Nonsense_Mutation_p.Q608*	NM_024421	NP_077739	Q08554	DSC1_HUMAN	desmocollin 1 isoform Dsc1a preproprotein	608	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			ovary(3)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			AGAAAGAATTGAAAAGGTGGT	0.358													11	29					0	0	0.001855	0	0
DSG1	1828	broad.mit.edu	37	18	28911801	28911801	+	Nonsense_Mutation	SNP	C	T	T	rs145081747		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:28911801C>T	uc002kwp.2	+	6	867	c.655C>T	c.(655-657)CGA>TGA	p.R219*		NM_001942	NP_001933	Q02413	DSG1_HUMAN	desmoglein 1 preproprotein	219	Extracellular (Potential).|Cadherin 2.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			skin(3)|ovary(2)|central_nervous_system(2)	7			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TGGAGAAATTCGAACGATGAA	0.328													31	74					0	0	0.002836	0	0
DSG1	1828	broad.mit.edu	37	18	28934983	28934983	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:28934983G>A	uc002kwp.2	+	15	3036	c.2824G>A	c.(2824-2826)GAG>AAG	p.E942K	DSG1_uc010xbp.1_Missense_Mutation_p.E301K	NM_001942	NP_001933	Q02413	DSG1_HUMAN	desmoglein 1 preproprotein	942	Desmoglein repeat 5.|Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			skin(3)|ovary(2)|central_nervous_system(2)	7			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TATGCACCCCGAGTTAGCCAA	0.488													68	186					0	0	0.003610	0	0
DSG3	1830	broad.mit.edu	37	18	29052254	29052254	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:29052254C>T	uc002kws.2	+	13	2014	c.1905C>T	c.(1903-1905)CCC>CCT	p.P635P	DSG3_uc002kwt.2_5'Flank	NM_001944	NP_001935	P32926	DSG3_HUMAN	desmoglein 3 preproprotein	635	Helical; (Potential).				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			skin(4)|ovary(3)|lung(1)|central_nervous_system(1)	9			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TAGTGGCCCCCCTTCTGCTGT	0.403													27	80					0	0	0.002836	0	0
DSG2	1829	broad.mit.edu	37	18	29099784	29099784	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:29099784G>A	uc002kwu.3	+	3	288	c.100G>A	c.(100-102)GAA>AAA	p.E34K		NM_001943	NP_001934	Q14126	DSG2_HUMAN	desmoglein 2 preproprotein	34					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			central_nervous_system(5)|ovary(2)|breast(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CACAAGAAATGAAAATAAGCT	0.398													30	40					0	0	0.007291	0	0
DSG2	1829	broad.mit.edu	37	18	29122510	29122510	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:29122510C>A	uc002kwu.3	+	14	2217	c.2029C>A	c.(2029-2031)CAA>AAA	p.Q677K	uc002kwv.3_Intron	NM_001943	NP_001934	Q14126	DSG2_HUMAN	desmoglein 2 preproprotein	677	Cytoplasmic (Potential).				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			central_nervous_system(5)|ovary(2)|breast(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			GCCAGTGGATCAAGGGGGCAG	0.498													23	45					6.32553e-13	8.26789e-13	0.004656	1	0
MCART2	147407	broad.mit.edu	37	18	29339787	29339787	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:29339787G>A	uc002kxa.2	-	1	1057	c.838C>T	c.(838-840)CTC>TTC	p.L280F		NM_001034172	NP_001029344	Q3SY17	MCAR2_HUMAN	mitochondrial carrier triple repeat 2	280	Helical; Name=6; (Potential).|Solcar 3.				transport	integral to membrane|mitochondrial inner membrane				skin(1)	1			OV - Ovarian serous cystadenocarcinoma(10;0.0539)			CAAGAGATGAGGGACCGATGG	0.373													19	43					0	0	0.002780	0	0
MEP1B	4225	broad.mit.edu	37	18	29790660	29790660	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:29790660C>T	uc002kxj.3	+	10	1163	c.1116C>T	c.(1114-1116)ACC>ACT	p.T372T		NM_005925	NP_005916	Q16820	MEP1B_HUMAN	meprin A beta precursor	372	Extracellular (Potential).|MAM.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			ovary(2)	2						GCAATTTAACCCTTGTGGAAG	0.348													34	81					0	0	0.002836	0	0
MEP1B	4225	broad.mit.edu	37	18	29797058	29797058	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:29797058C>T	uc002kxj.3	+	13	1911	c.1864C>T	c.(1864-1866)CGA>TGA	p.R622*		NM_005925	NP_005916	Q16820	MEP1B_HUMAN	meprin A beta precursor	622	Extracellular (Potential).|EGF-like.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			ovary(2)	2						CTGCACTGTTCGAGATGGCAA	0.398													31	48					0	0	0.002445	0	0
MEP1B	4225	broad.mit.edu	37	18	29797885	29797885	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:29797885G>A	uc002kxj.3	+	14	2095	c.2048G>A	c.(2047-2049)CGT>CAT	p.R683H		NM_005925	NP_005916	Q16820	MEP1B_HUMAN	meprin A beta precursor	683	Cytoplasmic (Potential).				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			ovary(2)	2						AAGAAATATCGTGAAAGGATG	0.408													15	42					0	0	0.004990	0	0
ASXL3	80816	broad.mit.edu	37	18	31323920	31323920	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:31323920C>T	uc010dmg.1	+	12	4163	c.4108C>T	c.(4108-4110)CCT>TCT	p.P1370S	ASXL3_uc002kxq.2_Missense_Mutation_p.P1077S	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	1370					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						CAACAGATTTCCTTCTGAGAA	0.498											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	45	80					0	0	0.002852	0	0
DTNA	1837	broad.mit.edu	37	18	32455319	32455319	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:32455319C>T	uc010dmn.1	+	17	1780	c.1779C>T	c.(1777-1779)TCC>TCT	p.S593S	DTNA_uc002kxw.2_Silent_p.S536S|DTNA_uc010dmj.2_Silent_p.S533S|DTNA_uc002kxz.2_Silent_p.S540S|DTNA_uc002kxy.2_Silent_p.S533S|DTNA_uc010xby.1_Silent_p.S283S|DTNA_uc010xbz.1_Silent_p.S302S|DTNA_uc010xca.1_Silent_p.S245S|DTNA_uc002kye.2_Silent_p.S241S	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN	dystrobrevin alpha isoform 1	593					neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding				0						CGCAGGACTCCCTCACAGGAG	0.562													20	47					0	0	0.002780	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555132	44555132	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:44555132G>A	uc010xdb.1	-	1	1318	c.1082C>T	c.(1081-1083)TCG>TTG	p.S361L	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide	361	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding				0						TTCAAGAACCGAGTAGGGGAC	0.627													15	537					0	0	0.004656	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555292	44555292	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:44555292C>T	uc010xdb.1	-	1	1158	c.922G>A	c.(922-924)GAA>AAA	p.E308K	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide	308	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding				0						AAAGCAGCTTCCTCCTGGAGC	0.637													25	695					0	0	0.005443	0	0
TCEB3B	51224	broad.mit.edu	37	18	44559500	44559501	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:44559500_44559501GG>AA	uc002lcr.1	-	1	2488_2489	c.2135_2136CC>TT	c.(2134-2136)CCC>CTT	p.P712L	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	712					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			ovary(2)|large_intestine(1)|pancreas(1)	4						TGCTCAGGCAGGGGTTGGCCCG	0.535													16	34					0	0	0.004672	0	0
CXXC1	30827	broad.mit.edu	37	18	47811704	47811704	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:47811704G>A	uc002leq.3	-	6	1390	c.657C>T	c.(655-657)TTC>TTT	p.F219F	CXXC1_uc002lep.3_Silent_p.F76F|CXXC1_uc002ler.3_Silent_p.F219F|CXXC1_uc010doy.2_Silent_p.F219F|CXXC1_uc002les.2_Silent_p.F219F	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN	CXXC finger 1 (PHD domain) isoform 2	219					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding	p.F219L(1)		upper_aerodigestive_tract(1)|ovary(1)	2						CCGAGGAAGGGAAGTACTTGT	0.677													13	25					0	0	0.007413	0	0
ME2	4200	broad.mit.edu	37	18	48447507	48447507	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:48447507G>A	uc002ley.2	+	10	1262	c.1006G>A	c.(1006-1008)GAG>AAG	p.E336K	ME2_uc010dpd.2_Missense_Mutation_p.E336K	NM_002396	NP_002387	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	336					malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding				0		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	NADH(DB00157)	GTCAGAACAAGAGGCACAAAA	0.303													22	39					0	0	0.006320	0	0
MEX3C	51320	broad.mit.edu	37	18	48703876	48703876	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:48703876G>A	uc002lfc.3	-	2	825	c.825C>T	c.(823-825)CCC>CCT	p.P275P		NM_016626	NP_057710	Q5U5Q3	MEX3C_HUMAN	ring finger and KH domain containing 2	275	KH 1.					cytoplasm|nucleus	RNA binding|zinc ion binding			lung(2)|ovary(1)|skin(1)	4		Colorectal(6;0.003)|all_epithelial(6;0.0473)		Colorectal(16;0.0175)|READ - Rectum adenocarcinoma(32;0.15)		CAACAAAAATGGGCTCTTCAC	0.418													36	88					0	0	0.003755	0	0
DCC	1630	broad.mit.edu	37	18	50985684	50985684	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:50985684G>A	uc002lfe.1	+	24	4062	c.3475G>A	c.(3475-3477)GAA>AAA	p.E1159K	DCC_uc010dpf.1_Missense_Mutation_p.E794K	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	1159	Cytoplasmic (Potential).				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CCATCATGAAGAAATGGAGAT	0.512													35	59					0	0	0.002836	0	0
CCDC68	80323	broad.mit.edu	37	18	52596037	52596037	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:52596037C>T	uc002lfs.2	-	8	849	c.677G>A	c.(676-678)GGA>GAA	p.G226E	CCDC68_uc002lft.2_Missense_Mutation_p.G226E	NM_001143829	NP_001137301	Q9H2F9	CCD68_HUMAN	coiled-coil domain containing 68	226	Potential.									skin(1)	1				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		AAACCTTTTTCCATATGTAGC	0.408													15	32					0	0	0.002450	0	0
TCF4	6925	broad.mit.edu	37	18	53017618	53017618	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:53017618C>T	uc002lfz.2	-	8	1133	c.521G>A	c.(520-522)CGA>CAA	p.R174Q	TCF4_uc010xdu.1_Missense_Mutation_p.R44Q|TCF4_uc010xdv.1_Missense_Mutation_p.R44Q|TCF4_uc002lfx.2_Missense_Mutation_p.R103Q|TCF4_uc010xdw.1_Missense_Mutation_p.R44Q|TCF4_uc002lfy.2_Missense_Mutation_p.R132Q|TCF4_uc010xdx.1_Missense_Mutation_p.R150Q|TCF4_uc010dph.1_Missense_Mutation_p.R174Q|TCF4_uc010xdy.1_Missense_Mutation_p.R150Q|TCF4_uc002lga.2_Missense_Mutation_p.R276Q|TCF4_uc010dpi.2_Missense_Mutation_p.R174Q|TCF4_uc002lgc.3_Missense_Mutation_p.R95Q	NM_003199	NP_003190	P15884	ITF2_HUMAN	transcription factor 4 isoform b	174					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			ovary(1)|lung(1)	2				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		AGGAACTTTTCGAACTTTCTT	0.368													12	23					0	0	0.001855	0	0
ONECUT2	9480	broad.mit.edu	37	18	55143862	55143862	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:55143862C>T	uc002lgo.2	+	2	1454	c.1422C>T	c.(1420-1422)TTC>TTT	p.F474F		NM_004852	NP_004843	O95948	ONEC2_HUMAN	one cut domain, family member 2	474	Homeobox.				organ morphogenesis	nucleus	sequence-specific DNA binding			ovary(2)|central_nervous_system(1)	3		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		GCAACTTCTTCATGAACGCCC	0.577													21	38					0	0	0.001523	0	0
ALPK2	115701	broad.mit.edu	37	18	56149252	56149252	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:56149252T>G	uc002lhj.3	-	13	6530	c.6316A>C	c.(6316-6318)AAC>CAC	p.N2106H		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	heart alpha-kinase	2106	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						ATGGAACAGTTGCCTTTAAAT	0.373													32	74					0	0	0.004289	0	0
ALPK2	115701	broad.mit.edu	37	18	56274662	56274662	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:56274662T>C	uc002lhj.3	-	3	333	c.119A>G	c.(118-120)AAG>AGG	p.K40R		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	heart alpha-kinase	40	Ig-like 1.						ATP binding|protein serine/threonine kinase activity			ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						TACCTCTGGCTTGGGCTGACC	0.348													23	41					0	0	0.003330	0	0
CDH20	28316	broad.mit.edu	37	18	59158012	59158012	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:59158012G>A	uc010dps.1	+	1	238	c.226G>A	c.(226-228)GAC>AAC	p.D76N	CDH20_uc002lif.2_Missense_Mutation_p.D70N	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	cadherin 20, type 2 preproprotein	76	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|ovary(1)|pancreas(1)	5		Colorectal(73;0.186)				CACTGGGACCGACCCTTTGTA	0.453													30	62					0	0	0.008361	0	0
TNFRSF11A	8792	broad.mit.edu	37	18	60036649	60036650	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:60036649_60036650GG>AA	uc002lin.2	+	9	1537_1538	c.1499_1500GG>AA	c.(1498-1500)AGG>AAA	p.R500K	TNFRSF11A_uc010dpv.2_Intron	NM_003839	NP_003830	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily,	500	Cytoplasmic (Potential).				adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity			breast(2)|lung(1)	3		Colorectal(73;0.188)				GCTGATGGGAGGCTCCCAAGCT	0.644									Paget_Disease_of_Bone				20	51					0	0	0.004672	0	0
SERPINB4	6318	broad.mit.edu	37	18	61308203	61308203	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:61308203T>A	uc002ljf.2	-	5	460	c.374A>T	c.(373-375)AAA>ATA	p.K125I	SERPINB4_uc002lje.2_Missense_Mutation_p.K125I|SERPINB4_uc002ljg.2_Intron	NM_002974	NP_002965	P48594	SPB4_HUMAN	serine (or cysteine) proteinase inhibitor, clade	125					immune response|regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|lung(1)	3						CTGGTAAAATTTCTTGATGGC	0.343													28	56					0	0	0.007291	0	0
SERPINB4	6318	broad.mit.edu	37	18	61325864	61325864	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:61325864C>T	uc002ljg.2	-	4	378	c.352G>A	c.(352-354)GAA>AAA	p.E118K	SERPINB3_uc002lji.2_Missense_Mutation_p.E118K|SERPINB3_uc010dqa.2_Missense_Mutation_p.E118K|SERPINB3_uc010dqb.2_3'UTR			P48594	SPB4_HUMAN	SubName: Full=Squamous cell carcinoma antigen 2;	118					immune response|regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|lung(1)	3						TCTAAATATTCCTTTGAGATA	0.318													19	42					0	0	0.008871	0	0
SERPINB10	5273	broad.mit.edu	37	18	61587116	61587116	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:61587116C>T	uc010xev.1	+	5	557	c.467C>T	c.(466-468)TCT>TTT	p.S156F	SERPINB10_uc010xew.1_Missense_Mutation_p.S156F	NM_005024	NP_005015	P48595	SPB10_HUMAN	serine (or cysteine) proteinase inhibitor, clade	156						cytoplasm|nucleus	serine-type endopeptidase inhibitor activity			lung(1)|kidney(1)|skin(1)	3		Esophageal squamous(42;0.131)				GACATCAACTCTTGGGTTGAA	0.388													21	41					0	0	0.002299	0	0
HMSD	284293	broad.mit.edu	37	18	61620733	61620733	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:61620733A>G	uc010dqj.2	+	2	193	c.44A>G	c.(43-45)AAG>AGG	p.K15R		NM_001123366	NP_001116838	A8MTL9	HMSD_HUMAN	histocompatibility (minor) serpin domain	15						extracellular region	serine-type endopeptidase inhibitor activity				0						ATGGGGGCAAAGGGAAACACT	0.403													13	21					0	0	0.003163	0	0
CD226	10666	broad.mit.edu	37	18	67563103	67563103	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:67563103G>A	uc010dqo.2	-	3	1008	c.561C>T	c.(559-561)TTC>TTT	p.F187F	CD226_uc002lkm.3_Silent_p.F187F	NM_006566	NP_006557	Q15762	CD226_HUMAN	CD226 molecule precursor	187	Ig-like C2-type 2.|Extracellular (Potential).				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity				0		Esophageal squamous(42;0.129)				ACTTGGAGGTGAAATTTCTGC	0.537													24	59					0	0	0.003330	0	0
CBLN2	147381	broad.mit.edu	37	18	70205947	70205947	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:70205947T>C	uc002lku.2	-	3	653	c.418A>G	c.(418-420)AAA>GAA	p.K140E	CBLN2_uc002lkv.2_Missense_Mutation_p.K140E	NM_182511	NP_872317	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	140	C1q.					integral to membrane					0		Esophageal squamous(42;0.131)				TAAATCCCTTTTCTCGGTGCT	0.413													24	64					0	0	0.003954	0	0
CBLN2	147381	broad.mit.edu	37	18	70209173	70209173	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:70209173C>G	uc002lku.2	-	2	458	c.223G>C	c.(223-225)GAC>CAC	p.D75H	CBLN2_uc002lkv.2_Missense_Mutation_p.D75H	NM_182511	NP_872317	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	75						integral to membrane					0		Esophageal squamous(42;0.131)				ACGGCGCCGTCCGCCGACGGG	0.711													10	14					0	0	0.008291	0	0
NETO1	81832	broad.mit.edu	37	18	70450954	70450954	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:70450954C>T	uc002lkw.2	-	7	1111	c.827G>A	c.(826-828)CGA>CAA	p.R276Q	NETO1_uc002lkx.1_Missense_Mutation_p.R275Q|NETO1_uc002lky.1_Missense_Mutation_p.R276Q	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)		TCGGCTGTTTCGACTGCCCTC	0.463													33	80					0	0	0.003755	0	0
NETO1	81832	broad.mit.edu	37	18	70526091	70526091	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:70526091C>T	uc002lkw.2	-	4	723	c.439G>A	c.(439-441)GGA>AGA	p.G147R	NETO1_uc002lkx.1_Missense_Mutation_p.G146R|NETO1_uc002lky.1_Missense_Mutation_p.G147R|NETO1_uc002lkz.2_Missense_Mutation_p.G146R	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin- and tolloid-like protein 1 isoform 3	147	CUB 1.|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)		GCTGAAAATCCCATAGATTCC	0.328													21	49					0	0	0.001882	0	0
SALL3	27164	broad.mit.edu	37	18	76752136	76752136	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:76752136G>A	uc002lmt.2	+	2	145	c.145G>A	c.(145-147)GAG>AAG	p.E49K	SALL3_uc010dra.2_5'Flank	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	49					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CGGGGGCGAGGAGACCAGCGT	0.692													7	8					0	0	0.004482	0	0
SALL3	27164	broad.mit.edu	37	18	76754462	76754462	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:76754462C>T	uc002lmt.2	+	2	2471	c.2471C>T	c.(2470-2472)TCC>TTC	p.S824F	SALL3_uc010dra.2_Missense_Mutation_p.S431F	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	824					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CCACTCCTGTCCTACGCGGGG	0.642													7	18					0	0	0.003080	0	0
SALL3	27164	broad.mit.edu	37	18	76757144	76757145	+	Missense_Mutation	DNP	CC	TT	TT	rs148335210	byFrequency	TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:76757144_76757145CC>TT	uc002lmt.2	+	3	3725_3726	c.3725_3726CC>TT	c.(3724-3726)CCC>CTT	p.P1242L	SALL3_uc010dra.2_Missense_Mutation_p.P777L	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	1242					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CCCCAGCTCCCCGTGAGTCTTG	0.614													30	69					0	0	0.004672	0	0
HCN2	610	broad.mit.edu	37	19	615843	615843	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:615843C>T	uc002lpe.2	+	8	2092	c.2039C>T	c.(2038-2040)TCG>TTG	p.S680L		NM_001194	NP_001185	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic	680	Cytoplasmic (Potential).				cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity				0		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACCTCAACTCGGGCGTATTC	0.612													12	24					0	0	0.001855	0	0
PTBP1	5725	broad.mit.edu	37	19	808653	808653	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:808653C>T	uc002lpr.2	+	12	1382	c.1276C>T	c.(1276-1278)CTG>TTG	p.L426L	PTBP1_uc002lpp.2_Silent_p.L452L|PTBP1_uc002lpq.2_Silent_p.L445L|PTBP1_uc002lps.2_Silent_p.L92L|PTBP1_uc002lpt.2_RNA|PTBP1_uc002lpu.1_Silent_p.L422L	NM_031991	NP_114368	P26599	PTBP1_HUMAN	polypyrimidine tract-binding protein 1 isoform	426					negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding			kidney(1)|skin(1)	2		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGACCAGGGCCTGACCAAGGA	0.642													6	13					0	0	0.003080	0	0
GRIN3B	116444	broad.mit.edu	37	19	1005535	1005535	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:1005535G>A	uc002lqo.1	+	3	2035	c.2035G>A	c.(2035-2037)GGG>AGG	p.G679R		NM_138690	NP_619635	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic,	679	Extracellular (Potential).				ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity				0		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	GGAGCTGTCGGGGATCCACGA	0.697													3	8					0	0	0.004672	0	0
ZNF554	115196	broad.mit.edu	37	19	2834269	2834269	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:2834269C>T	uc002lwm.2	+	5	1234	c.1036C>T	c.(1036-1038)CAC>TAC	p.H346Y	ZNF554_uc002lwl.2_Missense_Mutation_p.H295Y	NM_001102651	NP_001096121	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	346	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCAAAGAATTCACACGGGGGA	0.527													14	38					0	0	0.003163	0	0
ZNF555	148254	broad.mit.edu	37	19	2853797	2853797	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:2853797C>T	uc002lwo.2	+	4	1823	c.1734C>T	c.(1732-1734)TCC>TCT	p.S578S	ZNF555_uc002lwn.3_Silent_p.S577S	NM_152791	NP_690004	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	578	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				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)		GTTCCTCATCCTTAAGGCGAC	0.388													24	60					0	0	0.005443	0	0
ZNF57	126295	broad.mit.edu	37	19	2916978	2916978	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:2916978C>T	uc002lwr.2	+	4	507	c.359C>T	c.(358-360)GCC>GTC	p.A120V	ZNF57_uc010xha.1_Missense_Mutation_p.A88V	NM_173480	NP_775751	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	120					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				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)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		TATGGAGAAGCCATCCATCAA	0.373													23	46					0	0	0.002299	0	0
ZBTB7A	51341	broad.mit.edu	37	19	4055191	4055191	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:4055191G>A	uc002lzh.2	-	2	115	c.40C>T	c.(40-42)CCC>TCC	p.P14S	ZBTB7A_uc002lzi.2_Missense_Mutation_p.P14S	NM_015898	NP_056982	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	14					cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding			pancreas(1)|skin(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGTGGTCGGGGAACGGGATC	0.706													3	5					0	0	0.000248	0	0
CREB3L3	84699	broad.mit.edu	37	19	4171732	4171733	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:4171732_4171733CC>TT	uc002lzl.2	+	10	1268_1269	c.1152_1153CC>TT	c.(1150-1155)CCCCGA>CCTTGA	p.R385*	CREB3L3_uc002lzm.2_Nonsense_Mutation_p.R375*|CREB3L3_uc010xib.1_Nonsense_Mutation_p.R374*|CREB3L3_uc010xic.1_3'UTR	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like	385	Lumenal (Potential).				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCCAGGACCCCGACCCGAGGC	0.639													18	87					0	0	0.004672	0	0
SH3GL1	6455	broad.mit.edu	37	19	4363869	4363870	+	Silent	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:4363869_4363870GG>AA	uc002maj.2	-	6	577_578	c.471_472CC>TT	c.(469-474)CACCTG>CATTTG	p.157_158HL>HL	SH3GL1_uc002mak.2_Silent_p.93_94HL>HL|SH3GL1_uc010xig.1_Silent_p.109_110HL>HL	NM_003025	NP_003016	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	157_158	Potential.|BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		AGTTTCTTCAGGTGGTGCTGGA	0.629			T	MLL	AL								9	39					0	0	0.004672	0	0
CHAF1A	10036	broad.mit.edu	37	19	4428803	4428803	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:4428803C>T	uc002mal.2	+	8	1620	c.1520C>T	c.(1519-1521)TCC>TTC	p.S507F		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	507					cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			ovary(1)|skin(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCGAGTTCTCCTTCTTGAAA	0.597								Chromatin_Structure					21	45					0	0	0.001523	0	0
CHAF1A	10036	broad.mit.edu	37	19	4429773	4429773	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:4429773C>T	uc002mal.2	+	10	1942	c.1842C>T	c.(1840-1842)TCC>TCT	p.S614S		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	614					cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			ovary(1)|skin(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTCCCTGTCCCACAGTGAGG	0.517								Chromatin_Structure					26	69					0	0	0.007291	0	0
PLIN4	729359	broad.mit.edu	37	19	4511782	4511782	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:4511782C>T	uc002mar.1	-	3	2148	c.2148G>A	c.(2146-2148)AAG>AAA	p.K716K	PLIN4_uc010dub.1_5'Flank	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	plasma membrane associated protein, S3-12	716	19.|27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane					0						AGACGGTGTCCTTGGTACCAG	0.577													27	167					0	0	0.002445	0	0
TICAM1	148022	broad.mit.edu	37	19	4817964	4817964	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:4817964G>A	uc002mbi.2	-	2	677	c.426C>T	c.(424-426)AAC>AAT	p.N142N		NM_182919	NP_891549	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	142					apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			breast(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		ACCCACACCGGTTTCGGGCCT	0.677													26	70					0	0	0.001786	0	0
PLIN3	10226	broad.mit.edu	37	19	4844713	4844713	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:4844713G>A	uc002mbj.2	-	7	1104	c.927C>T	c.(925-927)CTC>CTT	p.L309L	PLIN3_uc002mbk.2_Silent_p.L297L|PLIN3_uc002mbl.3_Silent_p.L309L	NM_005817	NP_005808	O60664	PLIN3_HUMAN	mannose 6 phosphate receptor binding protein 1	309					vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding				0					Galsulfase(DB01279)|Idursulfase(DB01271)	CGGGGCCCTGGAGCTGCTTCT	0.607													4	11					0	0	0.000248	0	0
TMEM146	257062	broad.mit.edu	37	19	5778626	5778626	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:5778626G>A	uc002mda.2	+	22	2397	c.2336G>A	c.(2335-2337)AGG>AAG	p.R779K		NM_152784	NP_689997	Q86XM0	TM146_HUMAN	transmembrane protein 146 precursor	779	Cytoplasmic (Potential).					integral to membrane				ovary(1)|central_nervous_system(1)|pancreas(1)	3						GCCACAGCCAGGGCAGGCACA	0.632													27	53					0	0	0.002096	0	0
GPR108	56927	broad.mit.edu	37	19	6734246	6734246	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:6734246G>A	uc002mfp.2	-	5	493	c.447C>T	c.(445-447)TCC>TCT	p.S149S	GPR108_uc010duv.2_5'Flank|GPR108_uc002mfn.2_5'UTR|GPR108_uc002mfo.3_5'UTR|GPR108_uc010duw.2_RNA	NM_001080452	NP_001073921	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108 isoform 1	149						integral to membrane					0						GCCCTGGTTTGGAGGGTGCTT	0.652											OREG0025092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	39					0	0	0.004007	0	0
SH2D3A	10045	broad.mit.edu	37	19	6763721	6763721	+	Silent	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:6763721T>C	uc002mft.2	-	2	233	c.39A>G	c.(37-39)CAA>CAG	p.Q13Q	SH2D3A_uc010xjg.1_Missense_Mutation_p.N8S	NM_005490	NP_005481	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	13					JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(2)	2						GGTACCAAGGTTGGCCAGCAA	0.582													18	37					0	0	0.001523	0	0
EMR1	2015	broad.mit.edu	37	19	6903930	6903930	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:6903930G>A	uc002mfw.2	+	7	809	c.771G>A	c.(769-771)TTG>TTA	p.L257L	EMR1_uc010dvc.2_Silent_p.L257L|EMR1_uc010dvb.2_Silent_p.L205L|EMR1_uc010xji.1_Silent_p.L116L|EMR1_uc010xjj.1_Intron	NM_001974	NP_001965	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone	257	EGF-like 5; calcium-binding (Potential).|Extracellular (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	all_hematologic(4;0.166)					ATGGACAGTTGAATTTCACAG	0.453													24	33					0	0	0.003330	0	0
ARHGEF18	23370	broad.mit.edu	37	19	7535057	7535057	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:7535057C>T	uc002mgi.2	+	19	3648	c.3395C>T	c.(3394-3396)TCC>TTC	p.S1132F	ARHGEF18_uc010xjm.1_Missense_Mutation_p.S974F|ARHGEF18_uc002mgh.2_Missense_Mutation_p.S974F|ARHGEF18_uc002mgj.1_Missense_Mutation_p.S769F	NM_001130955	NP_001124427	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor 18	1132	Pro-rich.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			ovary(1)	1		Renal(5;0.0902)				GACAGCCCCTCCGAGGGCTTC	0.726													19	51					0	0	0.001882	0	0
PNPLA6	10908	broad.mit.edu	37	19	7623821	7623821	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:7623821G>A	uc010xjq.1	+	30	3708	c.3513G>A	c.(3511-3513)GGG>GGA	p.G1171G	PNPLA6_uc002mgq.1_Silent_p.G1123G|PNPLA6_uc010xjp.1_Silent_p.G1096G|PNPLA6_uc002mgr.1_Silent_p.G1123G|PNPLA6_uc002mgs.2_Silent_p.G1161G|PNPLA6_uc002mgt.1_RNA	NM_006702	NP_006693	Q8IY17	PLPL6_HUMAN	neuropathy target esterase isoform b	1162	Cytoplasmic (Potential).				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			ovary(3)	3						GCACCTACGGGGACAGCCTGT	0.637													7	20					0	0	0.003080	0	0
KIAA1543	57662	broad.mit.edu	37	19	7675458	7675458	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:7675458C>T	uc002mgv.3	+	6	958	c.857C>T	c.(856-858)CCC>CTC	p.P286L	KIAA1543_uc002mgu.3_Missense_Mutation_p.P313L	NM_020902	NP_065953	Q9P1Y5	CAMP3_HUMAN	NEZHA isoform 2	286	CH.				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			pancreas(1)	1						CGTGGCTGCCCCCTGTCCCTT	0.647													44	90					0	0	0.002522	0	0
FBN3	84467	broad.mit.edu	37	19	8131010	8131010	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:8131010G>A	uc002mjf.2	-	63	8244	c.8223C>T	c.(8221-8223)ATC>ATT	p.I2741I	FBN3_uc002mje.2_Silent_p.I537I	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	2741						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						TTCCGCGGACGATGACGTAGC	0.687													20	44					0	0	0.001523	0	0
FBN3	84467	broad.mit.edu	37	19	8188881	8188881	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:8188881C>T	uc002mjf.2	-	22	2764	c.2743G>A	c.(2743-2745)GAA>AAA	p.E915K		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	915	TB 5.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						AAACATGGTTCCAATCTCACA	0.632													3	8					0	0	0.000602	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8654208	8654208	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:8654208C>T	uc002mkj.1	-	18	2350	c.2076G>A	c.(2074-2076)GAG>GAA	p.E692E	ADAMTS10_uc002mki.1_Silent_p.E179E|ADAMTS10_uc002mkk.1_Silent_p.E324E	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1	692	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			pancreas(2)|skin(2)	4						GGCACTTGTCCTCCCGCAGGT	0.687													12	33					0	0	0.004007	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841889	8841889	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:8841889C>T	uc010xkg.1	+	1	499	c.499C>T	c.(499-501)CCC>TCC	p.P167S		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z,	167	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P167L(1)		central_nervous_system(1)|skin(1)	2						CCTGCATTTTCCCTACTGTGC	0.552													35	75					0	0	0.003755	0	0
MUC16	94025	broad.mit.edu	37	19	9009333	9009333	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:9009333A>G	uc002mkp.2	-	40	39344	c.39140T>C	c.(39139-39141)CTT>CCT	p.L13047P	MUC16_uc010dwi.2_5'Flank|MUC16_uc010dwj.2_5'Flank|MUC16_uc010xki.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	13049	Extracellular (Potential).|SEA 7.				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						CAAGGGACCAAGCTGTGGAAA	0.547													11	33					0	0	0.001855	0	0
MUC16	94025	broad.mit.edu	37	19	9045834	9045834	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:9045834C>T	uc002mkp.2	-	5	36001	c.35797G>A	c.(35797-35799)GAA>AAA	p.E11933K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	11935	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						CTGGAAAATTCTGGGGGTCCA	0.493													27	90					0	0	0.006320	0	0
MUC16	94025	broad.mit.edu	37	19	9056448	9056448	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:9056448G>A	uc002mkp.2	-	3	31202	c.30998C>T	c.(30997-30999)TCC>TTC	p.S10333F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	10335	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						GGTTGAAGAGGAGAATGGCAC	0.522													29	46					0	0	0.008361	0	0
MUC16	94025	broad.mit.edu	37	19	9057356	9057356	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:9057356C>T	uc002mkp.2	-	3	30294	c.30090G>A	c.(30088-30090)ACG>ACA	p.T10030T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	10032	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						AAGGTGAGGTCGTGACAGGTA	0.458													13	36					0	0	0.001855	0	0
MUC16	94025	broad.mit.edu	37	19	9057556	9057556	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:9057556C>T	uc002mkp.2	-	3	30094	c.29890G>A	c.(29890-29892)GGG>AGG	p.G9964R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	9966	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						GCTGTAGCCCCAGGAGAACTT	0.483													91	170					0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9061857	9061857	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:9061857C>T	uc002mkp.2	-	3	25793	c.25589G>A	c.(25588-25590)GGA>GAA	p.G8530E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	8532	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						GTGTGAAAATCCTGGAGATGC	0.522													24	50					0	0	0.003330	0	0
MUC16	94025	broad.mit.edu	37	19	9063622	9063622	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:9063622A>C	uc002mkp.2	-	3	24028	c.23824T>G	c.(23824-23826)TCA>GCA	p.S7942A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	7944	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						TGTGAGTGTGAAAATCCTTGA	0.458													25	67					0	0	0.002780	0	0
MUC16	94025	broad.mit.edu	37	19	9071269	9071269	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:9071269G>A	uc002mkp.2	-	3	16381	c.16177C>T	c.(16177-16179)CCA>TCA	p.P5393S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	5395	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						CTCAAATTTGGAGGTGAACTG	0.507													75	212					0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9074894	9074894	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:9074894G>A	uc002mkp.2	-	3	12756	c.12552C>T	c.(12550-12552)TCC>TCT	p.S4184S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	4186	Thr-rich.|Extracellular (Potential).|Ser-rich.				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						GTGGAGTAGAGGAGGGACTGT	0.507													22	36					0	0	0.002780	0	0
MUC16	94025	broad.mit.edu	37	19	9077502	9077502	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:9077502G>A	uc002mkp.2	-	3	10148	c.9944C>T	c.(9943-9945)TCC>TTC	p.S3315F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	3316	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						TGACTCTAGGGAGACAGAGGA	0.527													25	47					0	0	0.003954	0	0
MUC16	94025	broad.mit.edu	37	19	9082654	9082654	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:9082654G>A	uc002mkp.2	-	1	9365	c.9161C>T	c.(9160-9162)TCA>TTA	p.S3054L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	3055	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						AAGAAATAGTGAAGTCTTTCT	0.478													28	94					0	0	0.008361	0	0
MUC16	94025	broad.mit.edu	37	19	9083542	9083542	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:9083542G>A	uc002mkp.2	-	1	8477	c.8273C>T	c.(8272-8274)TCC>TTC	p.S2758F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	2758	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						GAATACAAGGGAACCAGTAGT	0.488													32	37					0	0	0.002836	0	0
MUC16	94025	broad.mit.edu	37	19	9088564	9088564	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:9088564G>A	uc002mkp.2	-	1	3455	c.3251C>T	c.(3250-3252)CCA>CTA	p.P1084L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	1084	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						GGACTGAGATGGAGATACTGA	0.448													17	43					0	0	0.006122	0	0
MUC16	94025	broad.mit.edu	37	19	9089213	9089213	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:9089213C>T	uc002mkp.2	-	1	2806	c.2602G>A	c.(2602-2604)GAA>AAA	p.E868K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	868	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						TTCGAAGTTTCCTCTGTTTCT	0.478													10	25					0	0	0.008291	0	0
OR7G2	390882	broad.mit.edu	37	19	9213977	9213977	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:9213977C>T	uc010xkk.1	-	1	6	c.6G>A	c.(4-6)CCG>CCA	p.P2P		NM_001005193	NP_001005193	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G,	Error:Variant_position_missing_in_Q8NG99_after_alignment					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						Gcagctgcatcggcatcactc	0.164													8	16					0	0	0.003080	0	0
OR7G3	390883	broad.mit.edu	37	19	9236929	9236929	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:9236929C>T	uc010xkl.1	-	1	698	c.698G>A	c.(697-699)GGA>GAA	p.G233E		NM_001001958	NP_001001958	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G,	233	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						TTTATACTTTCCACCAGCTGA	0.438													37	111					0	0	0.006999	0	0
OR7D4	125958	broad.mit.edu	37	19	9325081	9325081	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:9325081C>T	uc002mla.1	-	1	433	c.433G>A	c.(433-435)GTT>ATT	p.V145I		NM_001005191	NP_001005191	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D,	145	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4						GATGCCAGAACCAGGAGGCCA	0.512													6	39					0	0	0.001168	0	0
ZNF560	147741	broad.mit.edu	37	19	9581123	9581123	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:9581123C>T	uc002mlp.1	-	7	603	c.393G>A	c.(391-393)CAG>CAA	p.Q131Q	ZNF560_uc010dwr.1_Silent_p.Q25Q	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	zinc finger protein 560	131	KRAB 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1)	6						ACAGGTTTCTCTGAGCTGGGT	0.478													25	55					0	0	0.003330	0	0
DNMT1	1786	broad.mit.edu	37	19	10247806	10247806	+	Missense_Mutation	SNP	G	A	A	rs147984942	byFrequency	TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:10247806G>A	uc002mng.2	-	36	4576	c.4396C>T	c.(4396-4398)CGC>TGC	p.R1466C	DNMT1_uc002mne.2_RNA|DNMT1_uc002mnf.2_Missense_Mutation_p.R390C|DNMT1_uc010xlc.1_Missense_Mutation_p.R1482C|DNMT1_uc002mnh.2_Missense_Mutation_p.R1361C|DNMT1_uc010xld.1_Missense_Mutation_p.R1466C	NM_001379	NP_001370	P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1 isoform b	1466	Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	GAGCTGCTGCGGCCGTTCTTC	0.647													7	21					0	0	0.003080	0	0
DNMT1	1786	broad.mit.edu	37	19	10260594	10260594	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:10260594G>A	uc002mng.2	-	24	2448	c.2268C>T	c.(2266-2268)ACC>ACT	p.T756T	DNMT1_uc010xlc.1_Silent_p.T772T|DNMT1_uc002mnh.2_Silent_p.T651T|DNMT1_uc010xld.1_Silent_p.T756T	NM_001379	NP_001370	P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1 isoform b	756	BAH 1.				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	CCACTTCCAGGGTTTCCGCAT	0.438													20	66					0	0	0.002299	0	0
AP1M2	10053	broad.mit.edu	37	19	10692025	10692025	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:10692025G>A	uc002mpc.2	-	6	674	c.590C>T	c.(589-591)ACC>ATC	p.T197I	AP1M2_uc002mpd.2_Missense_Mutation_p.T197I	NM_005498	NP_005489	Q9Y6Q5	AP1M2_HUMAN	adaptor-related protein complex 1, mu 2 subunit	197	MHD.				cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			ovary(2)	2			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			GAGCTTGATGGTACCGACGAT	0.567											OREG0025241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	30					0	0	0.004007	0	0
SMARCA4	6597	broad.mit.edu	37	19	11144843	11144843	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:11144843C>T	uc002mqf.3	+	28	4202	c.3918C>T	c.(3916-3918)ATC>ATT	p.I1306I	SMARCA4_uc010dxp.2_Silent_p.I1306I|SMARCA4_uc010dxo.2_Silent_p.I1306I|SMARCA4_uc010dxq.2_Silent_p.I1273I|SMARCA4_uc010dxr.2_Silent_p.I1273I|SMARCA4_uc002mqj.3_Silent_p.I1273I|SMARCA4_uc010dxs.2_Silent_p.I1273I|SMARCA4_uc010dxt.1_Silent_p.I493I|SMARCA4_uc002mqh.3_Silent_p.I396I|SMARCA4_uc002mqi.1_Silent_p.I476I	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	1306					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			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)				ACCAGATGATCGCCCGGCACG	0.617			F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				25	30					0	0	0.005443	0	0
SMARCA4	6597	broad.mit.edu	37	19	11152020	11152020	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:11152020A>G	uc002mqf.3	+	30	4492	c.4208A>G	c.(4207-4209)GAG>GGG	p.E1403G	SMARCA4_uc010dxp.2_Missense_Mutation_p.E1403G|SMARCA4_uc010dxo.2_Missense_Mutation_p.E1435G|SMARCA4_uc010dxq.2_Missense_Mutation_p.E1370G|SMARCA4_uc010dxr.2_Missense_Mutation_p.E1370G|SMARCA4_uc002mqj.3_Missense_Mutation_p.E1373G|SMARCA4_uc010dxs.2_Missense_Mutation_p.E1373G|SMARCA4_uc002mqh.3_Missense_Mutation_p.E493G	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	1403					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			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)				ATCGAAGAGGAGGTCCGGCAG	0.622			F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				17	48					0	0	0.006122	0	0
ZNF440	126070	broad.mit.edu	37	19	11942536	11942536	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:11942536T>C	uc002msp.1	+	4	701	c.545T>C	c.(544-546)ATT>ACT	p.I182T		NM_152357	NP_689570	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	182	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AAAACCTTTATTTCCCATTCA	0.403													37	90					0	0	0.004289	0	0
FARSA	2193	broad.mit.edu	37	19	13041110	13041110	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:13041110G>A	uc002mvs.2	-	4	478	c.430C>T	c.(430-432)CGG>TGG	p.R144W	FARSA_uc002mvt.2_RNA|FARSA_uc010xmv.1_Missense_Mutation_p.R144W|FARSA_uc010dyy.1_Missense_Mutation_p.R65W	NM_004461	NP_004452	Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	144					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding			ovary(1)	1					L-Phenylalanine(DB00120)	TGTCCCCCCCGGACCAGCTGG	0.652													12	24					0	0	0.002450	0	0
CACNA1A	773	broad.mit.edu	37	19	13418659	13418659	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:13418659G>A	uc010dze.2	-	15	2162	c.1926C>T	c.(1924-1926)TTC>TTT	p.F642F	CACNA1A_uc010dzc.2_Silent_p.F167F|CACNA1A_uc002mwy.3_Silent_p.F641F|CACNA1A_uc010xne.1_Silent_p.F167F	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	642	Extracellular (Potential).|II.				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TCCCTTCATCGAAATTAAACC	0.547													21	62					0	0	0.001882	0	0
ZSWIM4	65249	broad.mit.edu	37	19	13923934	13923934	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:13923934C>T	uc002mxh.1	+	6	1325	c.1136C>T	c.(1135-1137)TCC>TTC	p.S379F	ZSWIM4_uc010xng.1_Missense_Mutation_p.S185F	NM_023072	NP_075560	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	379							zinc ion binding			central_nervous_system(2)	2			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			GGCAACTACTCCTTCGACGGC	0.627													4	16					0	0	0.000602	0	0
C19orf57	79173	broad.mit.edu	37	19	14001203	14001203	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:14001203G>A	uc002mxl.1	-	6	525	c.466C>T	c.(466-468)CAG>TAG	p.Q156*	C19orf57_uc002mxk.1_Nonsense_Mutation_p.Q38*|C19orf57_uc002mxm.1_Intron	NM_024323	NP_077299	Q0VDD7	CS057_HUMAN	hypothetical protein LOC79173	156					multicellular organismal development		protein binding			ovary(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GTGGCCTCCTGGAGGGGGACC	0.667													11	41					0	0	0.008291	0	0
IL27RA	9466	broad.mit.edu	37	19	14159847	14159847	+	Missense_Mutation	SNP	C	T	T	rs148333746	by1000genomes	TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:14159847C>T	uc002mxx.2	+	9	1619	c.1196C>T	c.(1195-1197)TCA>TTA	p.S399L		NM_004843	NP_004834	Q6UWB1	I27RA_HUMAN	class I cytokine receptor precursor	399	Extracellular (Potential).|Fibronectin type-III 2.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity				0						GTCTCTGCTTCAGGCTTGGCC	0.552											OREG0025303	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	37					0	0	0.008871	0	0
CCDC105	126402	broad.mit.edu	37	19	15124523	15124523	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:15124523G>A	uc002nae.2	+	2	709	c.610G>A	c.(610-612)GAG>AAG	p.E204K		NM_173482	NP_775753	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	204	Potential.				microtubule cytoskeleton organization	microtubule				ovary(1)	1						ATGGGAGAAAGAGGAGCTGAA	0.478													5	9					0	0	0.001984	0	0
SYDE1	85360	broad.mit.edu	37	19	15222495	15222495	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:15222495C>T	uc002nah.1	+	6	1501	c.1470C>T	c.(1468-1470)CCC>CCT	p.P490P	SYDE1_uc002nai.1_Silent_p.P423P|SYDE1_uc002naj.1_Silent_p.P147P	NM_033025	NP_149014	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1	490	Rho-GAP.				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			ovary(1)|pancreas(1)	2						TCACCCAGCCCCTGTATAAGG	0.617													21	27					0	0	0.001523	0	0
WIZ	58525	broad.mit.edu	37	19	15537819	15537819	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:15537819C>T	uc002nbc.2	-	4	1600	c.1577G>A	c.(1576-1578)CGG>CAG	p.R526Q	WIZ_uc002nba.3_Missense_Mutation_p.R393Q|WIZ_uc002nbb.3_Missense_Mutation_p.R352Q	NM_021241	NP_067064	O95785	WIZ_HUMAN	widely-interspaced zinc finger motifs	1209						nucleus	zinc ion binding				0						CATGTCTTCCCGTGGTGCCCC	0.617													9	38					0	0	0.006214	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15579529	15579529	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:15579529T>C	uc002nbf.3	-	5	1809	c.1676A>G	c.(1675-1677)AAG>AGG	p.K559R		NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2 precursor	559					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			ovary(3)	3						CCTGGATCTCTTAGAGACACT	0.532													48	117					0	0	0.003610	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15586610	15586610	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:15586610C>T	uc002nbf.3	-	2	1004	c.871G>A	c.(871-873)GAG>AAG	p.E291K	PGLYRP2_uc002nbg.3_Missense_Mutation_p.E291K	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2 precursor	291					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			ovary(3)	3						GGCCGGGGCTCAGGAGTCCGG	0.612													8	27					0	0	0.004482	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15586637	15586637	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:15586637G>A	uc002nbf.3	-	2	977	c.844C>T	c.(844-846)CTT>TTT	p.L282F	PGLYRP2_uc002nbg.3_Missense_Mutation_p.L282F	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2 precursor	282					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			ovary(3)	3						TAGTCTCCAAGGATGACCCCA	0.622													8	37					0	0	0.006214	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15586981	15586981	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:15586981G>A	uc002nbf.3	-	2	633	c.500C>T	c.(499-501)GCC>GTC	p.A167V	PGLYRP2_uc002nbg.3_Missense_Mutation_p.A167V	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2 precursor	167					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			ovary(3)	3						GGAGGAGGTGGCTCTTACATC	0.542													29	64					0	0	0.007291	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15587015	15587015	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:15587015G>A	uc002nbf.3	-	2	599	c.466C>T	c.(466-468)CCA>TCA	p.P156S	PGLYRP2_uc002nbg.3_Missense_Mutation_p.P156S	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2 precursor	156					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			ovary(3)	3						ACAACATCTGGAAAGGTATCT	0.587													24	44					0	0	0.004656	0	0
CYP4F12	66002	broad.mit.edu	37	19	15789169	15789169	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:15789169C>T	uc002nbl.2	+	3	358	c.297C>T	c.(295-297)ATC>ATT	p.I99I	CYP4F12_uc010xoo.1_Silent_p.I99I|CYP4F12_uc010xop.1_Silent_p.I99I	NM_023944	NP_076433			cytochrome P450, family 4, subfamily F,											skin(3)|ovary(2)|central_nervous_system(2)	7	Acute lymphoblastic leukemia(2;0.0367)					TCCCCTTCATCGTTTTATGCC	0.547													28	72					0	0	0.008361	0	0
C19orf44	84167	broad.mit.edu	37	19	16612055	16612055	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:16612055C>T	uc002neh.1	+	2	525	c.452C>T	c.(451-453)TCC>TTC	p.S151F	MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Missense_Mutation_p.S151F|C19orf44_uc002neg.2_Missense_Mutation_p.S151F|C19orf44_uc010eai.1_RNA	NM_032207	NP_115583	Q9H6X5	CS044_HUMAN	hypothetical protein LOC84167	151											0						GACAAAACTTCCCAGAATCAA	0.483													27	56					0	0	0.005443	0	0
CPAMD8	27151	broad.mit.edu	37	19	17081754	17081754	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:17081754G>A	uc002nfb.2	-	18	2333	c.2301C>T	c.(2299-2301)TTC>TTT	p.F767F		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	720						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						TGTGGGGCTGGAAAGCGGGGA	0.597													22	30					0	0	0.002299	0	0
CPAMD8	27151	broad.mit.edu	37	19	17115153	17115153	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:17115153C>T	uc002nfb.2	-	8	776	c.744G>A	c.(742-744)TTG>TTA	p.L248L		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	201						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						ACCATTCTCCCAACACAGGCT	0.438													16	46					0	0	0.006122	0	0
UNC13A	23025	broad.mit.edu	37	19	17752302	17752302	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:17752302C>T	uc002nhd.2	-	21	2800	c.2800G>A	c.(2800-2802)GGT>AGT	p.G934S		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	unc-13 homolog A	846					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(3)	3						GCATCGTCACCCTTGGCATCT	0.547													18	33					0	0	0.007413	0	0
UPF1	5976	broad.mit.edu	37	19	18966754	18966754	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:18966754C>T	uc002nkg.2	+	12	1873	c.1598C>T	c.(1597-1599)CCG>CTG	p.P533L	UPF1_uc002nkf.2_Missense_Mutation_p.P522L	NM_002911	NP_002902	Q92900	RENT1_HUMAN	regulator of nonsense transcripts 1	533					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2						GTGTGTGCTCCGAGCAACATC	0.587													6	28					0	0	0.001168	0	0
ARMC6	93436	broad.mit.edu	37	19	19166145	19166145	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:19166145C>T	uc002nld.2	+	7	1443	c.1095C>T	c.(1093-1095)GTC>GTT	p.V365V	ARMC6_uc002nlc.2_Silent_p.V340V|ARMC6_uc010xql.1_Silent_p.V272V|ARMC6_uc002nle.2_Silent_p.V340V|ARMC6_uc010xqm.1_Silent_p.V365V	NM_033415	NP_219483	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	365	ARM 3.						protein binding				0			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			ATGCTATTGTCCGTGCTGGTG	0.627													16	26					0	0	0.004990	0	0
RFXANK	8625	broad.mit.edu	37	19	19307806	19307806	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:19307806C>T	uc002nls.2	+	4	727	c.222C>T	c.(220-222)ACC>ACT	p.T74T	RFXANK_uc002nlt.2_Silent_p.T73T|RFXANK_uc002nlu.2_Silent_p.T74T|RFXANK_uc002nlv.2_Silent_p.T74T|RFXANK_uc002nlw.2_Silent_p.T73T	NM_003721	NP_003712	O14593	RFXK_HUMAN	regulatory factor X-associated	74						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			ovary(2)	2			Epithelial(12;0.00228)			CCACTCTCACCAACCGGCAGC	0.612													14	56					0	0	0.001855	0	0
NCAN	1463	broad.mit.edu	37	19	19339322	19339322	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:19339322G>A	uc002nlz.2	+	8	2992	c.2893G>A	c.(2893-2895)GGC>AGC	p.G965S	NCAN_uc010ecc.1_Missense_Mutation_p.G529S	NM_004386	NP_004377	O14594	NCAN_HUMAN	chondroitin sulfate proteoglycan 3 precursor	965					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(4)	4			Epithelial(12;0.00544)			TGTCACCCTGGGCATAGAGGA	0.652													47	96					0	0	0.003610	0	0
NCAN	1463	broad.mit.edu	37	19	19339425	19339425	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:19339425C>T	uc002nlz.2	+	8	3095	c.2996C>T	c.(2995-2997)CCT>CTT	p.P999L	NCAN_uc010ecc.1_Missense_Mutation_p.P563L	NM_004386	NP_004377	O14594	NCAN_HUMAN	chondroitin sulfate proteoglycan 3 precursor	999					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(4)	4			Epithelial(12;0.00544)			CCAGGGACCCCTATGAATGCA	0.567													10	38					0	0	0.008291	0	0
TM6SF2	53345	broad.mit.edu	37	19	19381050	19381050	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:19381050G>A	uc002nmd.1	-	4	383	c.333C>T	c.(331-333)TTC>TTT	p.F111F	HAPLN4_uc002nmc.2_5'UTR	NM_001001524	NP_001001524	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	111	Helical; (Potential).					integral to membrane					0			Epithelial(12;0.0151)			AGTAGCAGATGAAGACTCCGT	0.657													16	41					0	0	0.001523	0	0
ZNF682	91120	broad.mit.edu	37	19	20117309	20117309	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:20117309G>A	uc002noq.2	-	4	1125	c.1002C>T	c.(1000-1002)ACC>ACT	p.T334T	ZNF682_uc002noo.2_Silent_p.T302T|ZNF682_uc002nop.2_Silent_p.T302T|ZNF682_uc010eck.2_Silent_p.T258T	NM_033196	NP_149973	O95780	ZN682_HUMAN	zinc finger protein 682 isoform 1	334	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2						CTCCCGTATGGGTTCTCTCAT	0.378													12	45					0	0	0.002450	0	0
ZNF682	91120	broad.mit.edu	37	19	20118051	20118051	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:20118051G>A	uc002noq.2	-	4	383	c.260C>T	c.(259-261)CCA>CTA	p.P87L	ZNF682_uc002noo.2_Missense_Mutation_p.P55L|ZNF682_uc002nop.2_Missense_Mutation_p.P55L|ZNF682_uc010eck.2_Missense_Mutation_p.P11L	NM_033196	NP_149973	O95780	ZN682_HUMAN	zinc finger protein 682 isoform 1	87					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2						GCACTGTTCTGGCAAAAGGTC	0.353													8	33					0	0	0.004482	0	0
ZNF708	7562	broad.mit.edu	37	19	21476932	21476932	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:21476932G>A	uc002npq.1	-	4	1034	c.836C>T	c.(835-837)CCC>CTC	p.P279L	ZNF708_uc002npr.1_Missense_Mutation_p.P215L|ZNF708_uc010ecs.1_Missense_Mutation_p.P215L	NM_021269	NP_067092	P17019	ZN708_HUMAN	zinc finger protein 708	279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(4)|skin(2)	6						ACATTTGTAGGGTTTCTCTCC	0.373													6	16					0	0	0.001168	0	0
ZNF429	353088	broad.mit.edu	37	19	21720483	21720483	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:21720483G>C	uc002nqd.1	+	4	1765	c.1628G>C	c.(1627-1629)GGC>GCC	p.G543A	ZNF429_uc010ecu.1_Intron	NM_001001415	NP_001001415	Q86V71	ZN429_HUMAN	zinc finger protein 429	543	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						GAAGAATGTGGCAAAGCTTTT	0.363													3	32					0	0	0.004672	0	0
ZNF43	7594	broad.mit.edu	37	19	21990993	21990993	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:21990993G>A	uc002nqj.2	-	4	1976	c.1846C>T	c.(1846-1848)CAT>TAT	p.H616Y	ZNF43_uc010ecv.2_Missense_Mutation_p.H610Y|ZNF43_uc002nql.2_Missense_Mutation_p.H610Y|ZNF43_uc002nqm.2_Missense_Mutation_p.H610Y|ZNF43_uc002nqk.2_Missense_Mutation_p.H546Y	NM_003423	NP_003414	P17038	ZNF43_HUMAN	zinc finger protein 43	616	C2H2-type 16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CCTCCAGTATGAATTTTTTTA	0.338													4	20					0	0	0.000602	0	0
ZNF43	7594	broad.mit.edu	37	19	21992020	21992020	+	Silent	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:21992020A>G	uc002nqj.2	-	4	949	c.819T>C	c.(817-819)CTT>CTC	p.L273L	ZNF43_uc010ecv.2_Silent_p.L267L|ZNF43_uc002nql.2_Silent_p.L267L|ZNF43_uc002nqm.2_Silent_p.L267L|ZNF43_uc002nqk.2_Silent_p.L203L	NM_003423	NP_003414	P17038	ZNF43_HUMAN	zinc finger protein 43	273	C2H2-type 4; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TATGGGTAGTAAGGATTGAGG	0.338													29	46					0	0	0.008361	0	0
ZNF208	7757	broad.mit.edu	37	19	22156665	22156665	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:22156665G>A	uc002nqp.2	-	4	1320	c.1171C>T	c.(1171-1173)CAT>TAT	p.H391Y	ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank	NM_007153	NP_009084			zinc finger protein 208											ovary(5)|skin(2)	7		all_lung(12;0.0961)|Lung NSC(12;0.103)				TCTCCAGTATGAATTTTCTTA	0.378													5	20					0	0	0.001984	0	0
ZNF676	163223	broad.mit.edu	37	19	22363492	22363492	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:22363492C>T	uc002nqs.1	-	3	1345	c.1027G>A	c.(1027-1029)GGG>AGG	p.G343R		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	343	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AAAGCTTTCCCGCATTCTTCA	0.408													12	40					0	0	0.003163	0	0
ZNF99	7652	broad.mit.edu	37	19	22939432	22939432	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:22939432C>T	uc010xrh.1	-	7	2739	c.2739G>A	c.(2737-2739)GAG>GAA	p.E913E		NM_001080409	NP_001073878			zinc finger protein 99											ovary(1)|skin(1)	2		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGTACGGTTTCTCCCCAGTAT	0.363													18	34					0	0	0.007413	0	0
ZNF99	7652	broad.mit.edu	37	19	22939527	22939527	+	Missense_Mutation	SNP	G	A	A	rs75920856		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:22939527G>A	uc010xrh.1	-	7	2644	c.2644C>T	c.(2644-2646)CAT>TAT	p.H882Y		NM_001080409	NP_001073878			zinc finger protein 99											ovary(1)|skin(1)	2		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TCCCCAGTATGAATTATCTTA	0.348													18	35					0	0	0.008871	0	0
ZNF99	7652	broad.mit.edu	37	19	22941853	22941853	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:22941853T>A	uc010xrh.1	-	5	585	c.585A>T	c.(583-585)AAA>AAT	p.K195N		NM_001080409	NP_001073878			zinc finger protein 99											ovary(1)|skin(1)	2		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				ATTCTTCACATTTATATGGTT	0.363													11	16					0	0	0.000978	0	0
ZNF536	9745	broad.mit.edu	37	19	30935403	30935403	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:30935403G>A	uc002nsu.1	+	2	1072	c.934G>A	c.(934-936)GAG>AAG	p.E312K	ZNF536_uc010edd.1_Missense_Mutation_p.E312K	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	312	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					GGCTTCGCAGGAGGAGGAGCT	0.642													41	64					0	0	0.003610	0	0
ZNF536	9745	broad.mit.edu	37	19	31039262	31039262	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:31039262G>A	uc002nsu.1	+	4	2874	c.2736G>A	c.(2734-2736)GTG>GTA	p.V912V	ZNF536_uc010edd.1_Silent_p.V912V	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	912					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					GCAACGGTGTGAATTTCCAAG	0.498													55	138					0	0	0.003610	0	0
ZNF536	9745	broad.mit.edu	37	19	31039981	31039981	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:31039981C>T	uc002nsu.1	+	4	3593	c.3455C>T	c.(3454-3456)ACC>ATC	p.T1152I	ZNF536_uc010edd.1_Missense_Mutation_p.T1152I	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	1152					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					ATCCCCGAAACCACGAGTAAG	0.552													12	34					0	0	0.000978	0	0
KIAA0355	9710	broad.mit.edu	37	19	34833157	34833157	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:34833157C>T	uc002nvd.3	+	10	3177	c.2318C>T	c.(2317-2319)TCT>TTT	p.S773F		NM_014686	NP_055501	O15063	K0355_HUMAN	hypothetical protein LOC9710	773										ovary(1)	1	Esophageal squamous(110;0.162)					GCAGGTCTGTCTCCTCTTGGT	0.577													29	96					0	0	0.008361	0	0
FAM187B	148109	broad.mit.edu	37	19	35719419	35719419	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:35719419G>A	uc002nyk.1	-	1	210	c.165C>T	c.(163-165)TTC>TTT	p.F55F		NM_152481	NP_689694	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	55	Extracellular (Potential).					integral to membrane				ovary(2)	2						TGCCTTGTGTGAATAAATAGT	0.512													28	49					0	0	0.001786	0	0
DMKN	93099	broad.mit.edu	37	19	36002486	36002486	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:36002486C>A	uc002nzm.3	-	5	928	c.745G>T	c.(745-747)GGC>TGC	p.G249C	DMKN_uc002nzj.2_5'Flank|DMKN_uc002nzk.3_5'Flank|DMKN_uc002nzl.3_5'Flank|DMKN_uc002nzo.3_Intron|DMKN_uc002nzn.3_Intron|DMKN_uc002nzw.2_5'Flank|DMKN_uc002nzr.2_5'Flank|DMKN_uc002nzp.2_5'Flank|DMKN_uc002nzq.2_5'Flank|DMKN_uc002nzt.2_5'Flank|DMKN_uc002nzs.2_5'Flank|DMKN_uc002nzu.2_5'Flank|DMKN_uc002nzv.2_5'Flank|DMKN_uc010xsv.1_5'Flank|DMKN_uc010xsw.1_5'Flank|DMKN_uc002nzx.3_5'Flank|DMKN_uc002nzy.3_5'Flank|DMKN_uc002nzz.2_RNA|DMKN_uc002oac.3_Missense_Mutation_p.G249C|DMKN_uc010eeb.2_Missense_Mutation_p.G249C|DMKN_uc002oaa.3_Missense_Mutation_p.G249C|DMKN_uc002oab.3_Missense_Mutation_p.G249C	NM_033317	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine isoform 2 precursor	249	Gly-rich.					extracellular region				large_intestine(1)|ovary(1)|skin(1)	3	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GACTGTGAGCCGCTGCCTCCC	0.363													7	14					1.06961e-07	1.39034e-07	0.003080	1	0
C19orf46	163183	broad.mit.edu	37	19	36497567	36497567	+	Missense_Mutation	SNP	C	T	T	rs149470089	by1000genomes	TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:36497567C>T	uc002ocq.1	-	5	714	c.625G>A	c.(625-627)GAG>AAG	p.E209K	C19orf46_uc002ocr.1_Missense_Mutation_p.E209K|C19orf46_uc002ocs.1_Missense_Mutation_p.E96K|C19orf46_uc010een.1_Missense_Mutation_p.E124K	NM_001039876	NP_001034965	Q8N205	SYNE4_HUMAN	hypothetical protein LOC163183	209	Cytoplasmic (Potential).				establishment of epithelial cell apical/basal polarity	integral to nuclear outer membrane	actin binding			ovary(1)	1	all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TTGGCCTCCTCGAACACCTGG	0.647													10	21					0	0	0.008291	0	0
ZFP82	284406	broad.mit.edu	37	19	36884177	36884177	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:36884177G>A	uc002ody.1	-	5	1300	c.1065C>T	c.(1063-1065)CTC>CTT	p.L355L		NM_133466	NP_597723	Q8N141	ZFP82_HUMAN	zinc finger protein 82 homolog	355	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2						TTCTCTGATGGAGTGTTAGTT	0.413													24	51					0	0	0.002780	0	0
ZNF790	388536	broad.mit.edu	37	19	37310620	37310620	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:37310620G>A	uc002oew.2	-	5	745	c.626C>T	c.(625-627)CCT>CTT	p.P209L	uc002oev.1_Intron	NM_206894	NP_996777	Q6PG37	ZN790_HUMAN	zinc finger protein 790	209	C2H2-type 1; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|skin(1)	2	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TTCTGAATCAGGAAGAAAGGT	0.348													7	28					0	0	0.001984	0	0
ZNF569	148266	broad.mit.edu	37	19	37904821	37904821	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:37904821A>C	uc002ogi.2	-	6	1297	c.739T>G	c.(739-741)TGT>GGT	p.C247G	ZNF569_uc002ogh.2_Missense_Mutation_p.C88G|ZNF569_uc002ogj.2_Missense_Mutation_p.C271G	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	247	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|skin(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GCTTTACCACATTCATTACAT	0.338													24	83					0	0	0.006320	0	0
ZNF540	163255	broad.mit.edu	37	19	38103241	38103241	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:38103241C>T	uc002ogq.2	+	5	1392	c.1060C>T	c.(1060-1062)CCC>TCC	p.P354S	ZNF540_uc002ogu.2_Missense_Mutation_p.P354S|ZNF540_uc010efq.2_Missense_Mutation_p.P322S	NM_152606	NP_689819	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGGTGTAAAACCCTACGAATG	0.383													18	42					0	0	0.007413	0	0
ZNF607	84775	broad.mit.edu	37	19	38190444	38190444	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:38190444G>A	uc002ohc.1	-	5	1184	c.588C>T	c.(586-588)CCC>CCT	p.P196P	ZNF607_uc002ohb.1_Silent_p.P195P	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	zinc finger protein 607	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			TACATTCATAGGGTTTCTCAA	0.398													27	63					0	0	0.007291	0	0
SPINT2	10653	broad.mit.edu	37	19	38779819	38779819	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:38779819T>C	uc002ohr.1	+	4	710	c.379T>C	c.(379-381)TTC>CTC	p.F127L	SPINT2_uc002ohs.1_Missense_Mutation_p.F70L	NM_021102	NP_066925	O43291	SPIT2_HUMAN	serine protease inhibitor, Kunitz type, 2	127	Extracellular (Potential).				cellular component movement	cytoplasm|extracellular region|integral to membrane|soluble fraction	serine-type endopeptidase inhibitor activity				0	all_cancers(60;6.83e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CAGCGATATGTTCAACTATGA	0.318													31	54					0	0	0.006999	0	0
RYR1	6261	broad.mit.edu	37	19	38984995	38984995	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:38984995C>T	uc002oit.2	+	39	6408	c.6278C>T	c.(6277-6279)TCC>TTC	p.S2093F	RYR1_uc002oiu.2_Missense_Mutation_p.S2093F|RYR1_uc002oiv.1_5'Flank	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	2093	Cytoplasmic.|6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TTCCCAGGGTCCCTGCAGGAG	0.647													12	39					0	0	0.004007	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39914713	39914713	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:39914713C>T	uc010xuz.1	+	19	3265	c.2940C>T	c.(2938-2940)ATC>ATT	p.I980I	PLEKHG2_uc010xuy.1_Silent_p.I921I|PLEKHG2_uc002olj.2_Intron|PLEKHG2_uc010xva.1_Silent_p.I758I	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	common-site lymphoma/leukemia guanine nucleotide	980					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			skin(2)|pancreas(1)|breast(1)	4	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ACCCAGAAATCCAAGTTCCAG	0.567													43	99					0	0	0.003610	0	0
FCGBP	8857	broad.mit.edu	37	19	40408010	40408010	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:40408010C>T	uc002omp.3	-	9	4719	c.4711G>A	c.(4711-4713)GGC>AGC	p.G1571S		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	1571	TIL 3.|Cys-rich.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TAGAGGAAGCCGGAGTCACAC	0.602													7	35					0	0	0.001984	0	0
SPTBN4	57731	broad.mit.edu	37	19	41012161	41012161	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:41012161G>A	uc002ony.2	+	13	1770	c.1684G>A	c.(1684-1686)GAG>AAG	p.E562K	SPTBN4_uc002onx.2_Missense_Mutation_p.E562K|SPTBN4_uc002onz.2_Missense_Mutation_p.E562K	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	562	Spectrin 4.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(1)|skin(1)	5			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCTGTCCCGGGAGTGTGGGCA	0.647													28	53					0	0	0.005443	0	0
LTBP4	8425	broad.mit.edu	37	19	41135420	41135420	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:41135420C>T	uc002ooh.1	+	34	4840	c.4840C>T	c.(4840-4842)CCG>TCG	p.P1614S	LTBP4_uc002oog.1_Missense_Mutation_p.P1577S|LTBP4_uc002ooi.1_Missense_Mutation_p.P1547S|LTBP4_uc002ooj.1_Missense_Mutation_p.P487S|LTBP4_uc002ool.1_Missense_Mutation_p.P626S|LTBP4_uc010xvp.1_Missense_Mutation_p.P374S	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding	1614	EGF-like 16.				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CACGCACCAGCCGCACCACTG	0.761													6	9					0	0	0.001168	0	0
ITPKC	80271	broad.mit.edu	37	19	41223580	41223580	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:41223580G>A	uc002oot.2	+	1	573	c.540G>A	c.(538-540)GGG>GGA	p.G180G	ADCK4_uc002ooq.1_5'Flank|ADCK4_uc002oor.2_5'Flank|ADCK4_uc002oos.2_5'Flank	NM_025194	NP_079470	Q96DU7	IP3KC_HUMAN	inositol 1,4,5-trisphosphate 3-kinase C	180						cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity				0			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			AAACGCATGGGTCACAGACTC	0.617													9	32					0	0	0.006214	0	0
CYP2F1	1572	broad.mit.edu	37	19	41626322	41626322	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:41626322C>T	uc002opu.1	+	4	461	c.405C>T	c.(403-405)TTC>TTT	p.F135F	CYP2F1_uc010xvw.1_Intron|CYP2F1_uc010xvv.1_Silent_p.F135F|CYP2F1_uc002opv.1_RNA	NM_000774	NP_000765	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F,	135					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding				0						TACGGAATTTCGGGATGGGGA	0.527													47	84					0	0	0.003610	0	0
CIC	23152	broad.mit.edu	37	19	42797168	42797168	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:42797168C>T	uc002otf.1	+	15	3570	c.3530C>T	c.(3529-3531)CCC>CTC	p.P1177L		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	capicua homolog	1177	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11		Prostate(69;0.00682)				CCGAAGGCCCCCCAGAAAGTG	0.652			T	DUX4	soft tissue sarcoma								10	29					0	0	0.008291	0	0
MEGF8	1954	broad.mit.edu	37	19	42839300	42839300	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:42839300C>T	uc002otl.3	+	4	1307	c.672C>T	c.(670-672)GCC>GCT	p.A224A	MEGF8_uc002otm.3_5'Flank	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	224	Extracellular (Potential).					integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)				GGGACCCTGCCTTCTCTGCCC	0.647													9	16					0	0	0.004482	0	0
PSG8	440533	broad.mit.edu	37	19	43259144	43259144	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:43259144G>A	uc002ouo.2	-	4	1082	c.984C>T	c.(982-984)GTC>GTT	p.V328V	PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc010eim.2_Intron|PSG8_uc002oui.2_Silent_p.V167V|PSG8_uc002ouh.2_Silent_p.V328V|PSG8_uc010ein.2_Silent_p.V206V|PSG8_uc002ouj.3_Silent_p.V110V|PSG8_uc002ouk.3_Silent_p.V167V|PSG8_uc002oul.3_Silent_p.V328V|PSG8_uc002oum.3_Silent_p.V235V|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Silent_p.V235V	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8 isoform	328						extracellular region					0		Prostate(69;0.00899)				ACTCACAGAGGACATTCAGGG	0.483													19	40					0	0	0.002780	0	0
PSG8	440533	broad.mit.edu	37	19	43259287	43259287	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:43259287G>A	uc002ouo.2	-	4	939	c.841C>T	c.(841-843)CCG>TCG	p.P281S	PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc010eim.2_Intron|PSG8_uc002oui.2_Missense_Mutation_p.P120S|PSG8_uc002ouh.2_Missense_Mutation_p.P281S|PSG8_uc010ein.2_Missense_Mutation_p.P159S|PSG8_uc002ouj.3_Missense_Mutation_p.P63S|PSG8_uc002ouk.3_Missense_Mutation_p.P120S|PSG8_uc002oul.3_Missense_Mutation_p.P281S|PSG8_uc002oum.3_Missense_Mutation_p.P188S|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Missense_Mutation_p.P188S	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8 isoform	281	Ig-like C2-type 2.					extracellular region					0		Prostate(69;0.00899)				GGACTGACCGGGAGGCTCTGA	0.453													54	119					0	0	0.003610	0	0
PSG1	5669	broad.mit.edu	37	19	43372369	43372369	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:43372369C>T	uc002ovb.2	-	5	1265	c.1127G>A	c.(1126-1128)GGA>GAA	p.G376E	PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_Intron|PSG1_uc002our.1_Missense_Mutation_p.G376E|PSG1_uc010eio.1_Missense_Mutation_p.G376E|PSG1_uc002oux.1_Missense_Mutation_p.G305E|PSG1_uc002ouy.1_Missense_Mutation_p.G283E|PSG1_uc002ouz.1_Missense_Mutation_p.G376E|PSG1_uc002ova.1_Missense_Mutation_p.G283E|PSG1_uc002ovc.2_Missense_Mutation_p.G283E|PSG1_uc002ovd.1_Missense_Mutation_p.G376E	NM_006905	NP_008836	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	376	Ig-like C2-type 3.				female pregnancy	extracellular region				ovary(2)	2		Prostate(69;0.00682)				GAGCTTTTGTCCTGGTAGCTG	0.453													50	135					0	0	0.003610	0	0
PSG7	5676	broad.mit.edu	37	19	43429979	43429979	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:43429979G>A	uc002ovl.3	-	6	1291	c.1189C>T	c.(1189-1191)CGT>TGT	p.R397C	PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Missense_Mutation_p.R310C|PSG7_uc002ous.1_RNA|PSG7_uc002out.1_Missense_Mutation_p.R123C|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Missense_Mutation_p.R310C|PSG7_uc010xwl.1_Missense_Mutation_p.R275C	NM_002783	NP_002774	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7	397	Ig-like C2-type 3.				female pregnancy	extracellular region					0		Prostate(69;0.00682)				GCTGAGTTACGAACAGAGCAA	0.468													56	125					0	0	0.003610	0	0
PSG6	5675	broad.mit.edu	37	19	43586713	43586713	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:43586713G>A	uc002ovi.2	-	1	102	c.9C>T	c.(7-9)CCC>CCT	p.P3P	PSG6_uc010xwk.1_Intron|PSG2_uc002ovr.2_Silent_p.P3P|PSG2_uc002ovq.3_Silent_p.P3P|PSG2_uc010eiq.1_Silent_p.P3P|PSG2_uc002ovs.3_Silent_p.P3P|PSG2_uc002ovt.3_Silent_p.P3P			Q00889	PSG6_HUMAN	SubName: Full=Putative uncharacterized protein PSG6;	3					female pregnancy	extracellular region				ovary(1)|skin(1)	2		Prostate(69;0.00899)				GGGCTGAGAGGGGCCCCATGG	0.582													24	58					0	0	0.001786	0	0
PSG5	5673	broad.mit.edu	37	19	43680251	43680251	+	Silent	SNP	C	T	T	rs138774767		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:43680251C>T	uc002ovu.2	-	3	611	c.480G>A	c.(478-480)GAG>GAA	p.E160E	PSG6_uc010xwk.1_Intron|PSG5_uc010eir.2_Intron|PSG5_uc002ovx.2_Silent_p.E160E|PSG5_uc002ovv.2_Silent_p.E253E|PSG5_uc002ovw.2_Intron	NM_002781	NP_002772	Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	160	Ig-like C2-type 1.				female pregnancy	extracellular region		p.E160E(1)		skin(3)	3		Prostate(69;0.00899)				CATCCTTATTCTCCCTGGGTT	0.488													67	163					0	0	0.003610	0	0
CD177	57126	broad.mit.edu	37	19	43859892	43859892	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:43859892G>A	uc002owi.2	+	4	501	c.459G>A	c.(457-459)AAG>AAA	p.K153K	CD177_uc010eis.2_RNA|CD177_uc002owj.2_RNA	NM_020406	NP_065139	Q8N6Q3	CD177_HUMAN	CD177 molecule precursor	153	UPAR/Ly6 1.				blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)	1		Prostate(69;0.00682)				TCTGCCCCAAGGGGACCACAC	0.577													13	32					0	0	0.001855	0	0
ZNF575	284346	broad.mit.edu	37	19	44039444	44039444	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:44039444G>A	uc002ows.2	+	4	871	c.343G>A	c.(343-345)GGC>AGC	p.G115S	ZNF575_uc002owq.2_Missense_Mutation_p.G214S	NM_174945	NP_777605	Q86XF7	ZN575_HUMAN	zinc finger protein 575	115					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0199)				CACGCACAGCGGCGCCCGCCC	0.721													9	19					0	0	0.008291	0	0
XRCC1	7515	broad.mit.edu	37	19	44058893	44058894	+	Missense_Mutation	DNP	GG	AA	AA	rs144559135		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:44058893_44058894GG>AA	uc002owt.2	-	4	438_439	c.318_319CC>TT	c.(316-321)AACCGC>AATTGC	p.R107C	XRCC1_uc010xwp.1_Missense_Mutation_p.R76C	NM_006297	NP_006288	P18887	XRCC1_HUMAN	X-ray repair cross complementing protein 1	107					base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			ovary(2)|lung(2)|large_intestine(1)|prostate(1)|breast(1)	7		Prostate(69;0.0153)				ATGCGAACGCGGTTGGGGTTTG	0.604								Other_BER_factors					36	85					0	0	0.004672	0	0
ZNF283	284349	broad.mit.edu	37	19	44351942	44351942	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:44351942C>T	uc002oxr.3	+	7	1457	c.1189C>T	c.(1189-1191)CAT>TAT	p.H397Y	ZNF283_uc002oxp.3_Missense_Mutation_p.H258Y	NM_181845	NP_862828	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	397					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)				TCAGATATTTCATACTGGTGA	0.373													57	96					0	0	0.003610	0	0
ZNF283	284349	broad.mit.edu	37	19	44352504	44352504	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:44352504C>T	uc002oxr.3	+	7	2019	c.1751C>T	c.(1750-1752)TCA>TTA	p.S584L	ZNF283_uc002oxp.3_Missense_Mutation_p.S445L	NM_181845	NP_862828	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	584	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)				AGTTGGGGTTCAAGCCTAGTT	0.418													13	45					0	0	0.001368	0	0
ZNF284	342909	broad.mit.edu	37	19	44591126	44591126	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:44591126C>T	uc002oyg.1	+	5	1711	c.1495C>T	c.(1495-1497)CGT>TGT	p.R499C	ZNF284_uc010ejd.2_RNA	NM_001037813	NP_001032902	Q2VY69	ZN284_HUMAN	zinc finger protein 284	499	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0435)				TTCAAAACTTCGTTTCCATCA	0.418													22	23					0	0	0.002299	0	0
ZNF234	10780	broad.mit.edu	37	19	44662093	44662093	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:44662093C>T	uc002oym.2	+	6	2231	c.1924C>T	c.(1924-1926)CAT>TAT	p.H642Y	ZNF234_uc002oyl.3_Missense_Mutation_p.H642Y	NM_006630	NP_006621	Q14588	ZN234_HUMAN	zinc finger protein 234	642	C2H2-type 18.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0435)				ATTACAGTATCATAGGCGAGT	0.413													28	53					0	0	0.005443	0	0
ZNF285	26974	broad.mit.edu	37	19	44891250	44891250	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:44891250T>C	uc002ozd.3	-	4	1244	c.1157A>G	c.(1156-1158)AAC>AGC	p.N386S	ZFP112_uc010xwz.1_Intron|ZNF285_uc010xxa.1_Missense_Mutation_p.N393S	NM_152354	NP_689567	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	386	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(2)	4						GACAAGAAGGTTGGAGCTCTG	0.463													16	40					0	0	0.004007	0	0
CEACAM20	125931	broad.mit.edu	37	19	45028069	45028069	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:45028069C>T	uc010ejn.1	-	3	438	c.422G>A	c.(421-423)CGA>CAA	p.R141Q	CEACAM20_uc010ejo.1_Missense_Mutation_p.R141Q|CEACAM20_uc010ejp.1_Missense_Mutation_p.R141Q|CEACAM20_uc010ejq.1_Missense_Mutation_p.R141Q	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion	141	Ig-like C2-type 1.|Extracellular (Potential).					integral to membrane				large_intestine(2)	2		Prostate(69;0.0352)				AAGGGCATCTCGAGCTTCACA	0.502													83	236					0	0	0.003610	0	0
CEACAM16	388551	broad.mit.edu	37	19	45207391	45207391	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:45207391C>T	uc010xxd.1	+	4	692	c.486C>T	c.(484-486)GTC>GTT	p.V162V	CEACAM16_uc002ozq.2_Silent_p.V221V	NM_001039213	NP_001034302	A7LI12	A7LI12_HUMAN	carcinoembryonic antigen-related cell adhesion	162										ovary(1)	1	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				CCGCCGAGGTCCGCTGGTTCT	0.706													10	41					0	0	0.008291	0	0
PPP1R13L	10848	broad.mit.edu	37	19	45899951	45899952	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:45899951_45899952GG>AA	uc002pbn.2	-	4	640_641	c.563_564CC>TT	c.(562-564)CCC>CTT	p.P188L	PPP1R13L_uc002pbo.2_Missense_Mutation_p.P188L|PPP1R13L_uc002pbp.2_Missense_Mutation_p.P188L	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13	188	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			skin(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CCTCCGCCAGGGGGCTGCCGCG	0.797													5	11					0	0	0.004672	0	0
PPP1R13L	10848	broad.mit.edu	37	19	45901270	45901270	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:45901270G>A	uc002pbn.2	-	3	268	c.191C>T	c.(190-192)CCT>CTT	p.P64L	PPP1R13L_uc002pbo.2_Missense_Mutation_p.P64L|PPP1R13L_uc002pbp.2_Missense_Mutation_p.P64L	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13	64	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			skin(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TACCCTAGAAGGGGGTCCGGC	0.617													20	24					0	0	0.002780	0	0
DMPK	1760	broad.mit.edu	37	19	46281006	46281006	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:46281006G>A	uc002pdd.1	-	6	1375	c.831C>T	c.(829-831)TTC>TTT	p.F277F	DMPK_uc010xxs.1_Silent_p.F178F|DMPK_uc002pde.1_Silent_p.F277F|DMPK_uc002pdf.1_Silent_p.F267F|DMPK_uc002pdg.1_Silent_p.F267F|DMPK_uc002pdh.1_Silent_p.F267F|DMPK_uc002pdi.1_Silent_p.F293F|DMPK_uc010xxt.1_Silent_p.F267F	NM_001081563	NP_001075032	Q09013	DMPK_HUMAN	myotonic dystrophy protein kinase isoform 1	277	Protein kinase.				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)	3		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		TTTCATAGGCGAATACACCCA	0.632													42	78					0	0	0.007835	0	0
RSPH6A	81492	broad.mit.edu	37	19	46299343	46299343	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:46299343G>A	uc002pdm.2	-	6	2081	c.1938C>T	c.(1936-1938)ATC>ATT	p.I646I	RSPH6A_uc002pdl.2_Silent_p.I382I	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	radial spokehead-like 1	646	Glu-rich.					intracellular				ovary(1)|central_nervous_system(1)	2						GACCCCAGCCGATGTAGATGT	0.478													35	65					0	0	0.005524	0	0
SYMPK	8189	broad.mit.edu	37	19	46318830	46318830	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:46318830C>T	uc002pdn.2	-	27	4058	c.3813G>A	c.(3811-3813)AAG>AAA	p.K1271K	RSPH6A_uc002pdm.2_5'Flank	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	symplekin	1271					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			ovary(1)	1		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		AGCTGTTCCCCTTGGCCTCGG	0.667													5	12					0	0	0.001984	0	0
IGFL2	147920	broad.mit.edu	37	19	46663963	46663963	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:46663963G>A	uc010xxv.1	+	3	202	c.166G>A	c.(166-168)GCC>ACC	p.A56T	IGFL2_uc002peb.2_Missense_Mutation_p.A67T	NM_001135113	NP_001128585	Q6UWQ7	IGFL2_HUMAN	IGF-like family member 2 isoform b	56						extracellular region	protein binding				0		Ovarian(192;0.0908)|all_neural(266;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247)		TTACAATGACGCCATCGTGTC	0.592													30	195					0	0	0.006320	0	0
IGFL2	147920	broad.mit.edu	37	19	46664135	46664135	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:46664135A>T	uc010xxv.1	+	3	374	c.338A>T	c.(337-339)GAA>GTA	p.E113V	IGFL2_uc002peb.2_Missense_Mutation_p.E124V	NM_001135113	NP_001128585	Q6UWQ7	IGFL2_HUMAN	IGF-like family member 2 isoform b	113						extracellular region	protein binding				0		Ovarian(192;0.0908)|all_neural(266;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247)		AGTAAATGTGAAAGGTAGGGA	0.527													13	30					0	0	0.001855	0	0
CCDC9	26093	broad.mit.edu	37	19	47773840	47773840	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:47773840C>T	uc010xym.1	+	10	1187	c.980C>T	c.(979-981)CCC>CTC	p.P327L		NM_015603	NP_056418	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	327											0		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		CCCCCGAAGCCCCCTACTTTT	0.652													11	55					0	0	0.002450	0	0
SLC8A2	6543	broad.mit.edu	37	19	47940789	47940789	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:47940789C>T	uc002pgx.2	-	8	2318	c.2040G>A	c.(2038-2040)ACG>ACA	p.T680T	SLC8A2_uc010xyq.1_Silent_p.T436T|SLC8A2_uc010xyr.1_Silent_p.T143T|SLC8A2_uc010ele.2_Silent_p.T680T	NM_015063	NP_055878	Q9UPR5	NAC2_HUMAN	solute carrier family 8 member 2 precursor	680	Cytoplasmic (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			skin(3)|ovary(1)	4		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		AGGCCAAGTTCGTTTTCTTGA	0.478													17	59					0	0	0.001523	0	0
GLTSCR1	29998	broad.mit.edu	37	19	48197743	48197743	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:48197743C>T	uc002phh.3	+	8	2849	c.2655C>T	c.(2653-2655)TCC>TCT	p.S885S	GLTSCR1_uc002phi.3_Silent_p.S643S	NM_015711	NP_056526	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	885							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)		CCTCCACCTCCTCTGCTGTGG	0.711													3	3					0	0	0.000248	0	0
CABP5	56344	broad.mit.edu	37	19	48544856	48544856	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:48544856C>T	uc002phu.1	-	2	193	c.68G>A	c.(67-69)AGA>AAA	p.R23K		NM_019855	NP_062829	Q9NP86	CABP5_HUMAN	calcium binding protein 5	23					signal transduction	cytoplasm	calcium ion binding			skin(1)	1		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)		TCCCAGTGGTCTTTCCTGGAA	0.537													19	61					0	0	0.003330	0	0
KDELR1	10945	broad.mit.edu	37	19	48887538	48887538	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:48887538G>A	uc002pjb.1	-	4	748	c.553C>T	c.(553-555)CTG>TTG	p.L185L	KDELR1_uc002pja.1_Silent_p.L123L	NM_006801	NP_006792	P24390	ERD21_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum	185	Helical; (Potential).				intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane|membrane fraction	KDEL sequence binding|protein binding|receptor activity				0		all_epithelial(76;2.48e-06)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Prostate(7;0.122)|Breast(70;0.203)		all cancers(93;0.000114)|OV - Ovarian serous cystadenocarcinoma(262;0.000136)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.0145)		GTCTGGACCAGGCCTGCCACA	0.527													12	18					0	0	0.000978	0	0
SPACA4	171169	broad.mit.edu	37	19	49110474	49110475	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:49110474_49110475GG>AA	uc002pjo.2	+	1	475_476	c.239_240GG>AA	c.(238-240)AGG>AAA	p.R80K	FAM83E_uc002pjn.2_Intron	NM_133498	NP_598005	Q8TDM5	SACA4_HUMAN	sperm acrosomal membrane protein 14 precursor	80	UPAR/Ly6 1.				cell adhesion	acrosomal vesicle|anchored to membrane|plasma membrane				central_nervous_system(1)	1		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		GTCAGCTACAGGGGCGTCACCT	0.673													5	16					0	0	0.004672	0	0
FUT1	2523	broad.mit.edu	37	19	49253551	49253551	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:49253551G>A	uc002pkk.2	-	4	1963	c.988C>T	c.(988-990)CTG>TTG	p.L330L		NM_000148	NP_000139	P19526	FUT1_HUMAN	fucosyltransferase 1	330	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity			ovary(1)	1		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		GAGTCTGGCAGGGTGAAGTTG	0.572													15	21					0	0	0.003163	0	0
FUT1	2523	broad.mit.edu	37	19	49254217	49254218	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:49254217_49254218GG>AT	uc002pkk.2	-	4	1296_1297	c.321_322CC>AT	c.(319-324)GGCCGC>GGATGC	p.R108C		NM_000148	NP_000139	P19526	FUT1_HUMAN	fucosyltransferase 1	108	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity			ovary(1)	1		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		AAGGCCCGGCGGCCGTTGAGCT	0.658													14	31					0	0	0.004672	0	0
IRF3	3661	broad.mit.edu	37	19	50165465	50165465	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:50165465C>T	uc010end.1	-	6	1104	c.722G>A	c.(721-723)TGG>TAG	p.W241*	IRF3_uc002pos.1_5'Flank|IRF3_uc002pot.1_Intron|IRF3_uc002pox.1_Nonsense_Mutation_p.W241*|IRF3_uc002poy.1_Nonsense_Mutation_p.W241*|IRF3_uc002pou.2_Nonsense_Mutation_p.W241*|IRF3_uc002pov.2_Nonsense_Mutation_p.W95*|IRF3_uc002pow.2_Nonsense_Mutation_p.W241*|IRF3_uc002poz.1_Nonsense_Mutation_p.W241*|BCL2L12_uc002ppa.2_5'Flank|BCL2L12_uc002ppb.2_5'Flank	NM_001571	NP_001562	Q14653	IRF3_HUMAN	interferon regulatory factor 3	241	Involved in HERC5 binding.				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			ovary(2)	2		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		TGTGACTGGCCATCCAGGCAG	0.657													13	35					0	0	0.001368	0	0
CPT1C	126129	broad.mit.edu	37	19	50209330	50209330	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:50209330G>A	uc002ppj.2	+	10	1334	c.1129G>A	c.(1129-1131)GAA>AAA	p.E377K	CPT1C_uc002ppl.3_Missense_Mutation_p.E343K|CPT1C_uc002ppi.2_Missense_Mutation_p.E294K|CPT1C_uc002ppk.2_Missense_Mutation_p.E366K|CPT1C_uc010eng.2_Missense_Mutation_p.E377K|CPT1C_uc010enh.2_Missense_Mutation_p.E377K|CPT1C_uc010ybc.1_Missense_Mutation_p.E248K|CPT1C_uc010eni.1_Missense_Mutation_p.E34K	NM_152359	NP_689572	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C isoform 2	377	Cytoplasmic (Potential).			HEEH -> RTRG (in Ref. 6; CAD38561).	fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CCCCCACGAGGAACATCTGGC	0.632													6	22					0	0	0.003080	0	0
MYH14	79784	broad.mit.edu	37	19	50784936	50784936	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:50784936C>T	uc002prr.1	+	31	4300	c.4253C>T	c.(4252-4254)GCC>GTC	p.A1418V	MYH14_uc010enu.1_Missense_Mutation_p.A1459V|MYH14_uc002prq.1_Missense_Mutation_p.A1426V|MYH14_uc010ycb.1_Intron	NM_024729	NP_079005	Q7Z406	MYH14_HUMAN	myosin, heavy chain 14 isoform 2	1418	Potential.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)	1		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GCCCGGGAGGCCGAGGCCCTG	0.736													6	15					0	0	0.001984	0	0
MYH14	79784	broad.mit.edu	37	19	50812330	50812330	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:50812330C>T	uc002prr.1	+	40	5780	c.5733C>T	c.(5731-5733)TCC>TCT	p.S1911S	MYH14_uc010enu.1_Silent_p.S1952S|MYH14_uc002prq.1_Silent_p.S1919S|MYH14_uc010ycb.1_Silent_p.S262S|MYH14_uc002prs.1_Silent_p.S262S	NM_024729	NP_079005	Q7Z406	MYH14_HUMAN	myosin, heavy chain 14 isoform 2	1911	Potential.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)	1		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		AGGAGGCATCCCGGGCTCAGG	0.622													14	38					0	0	0.001855	0	0
KCNC3	3748	broad.mit.edu	37	19	50823902	50823902	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:50823902G>A	uc002pru.1	-	3	2413	c.2118C>T	c.(2116-2118)GCC>GCT	p.A706A	KCNC3_uc002prt.1_Silent_p.A342A	NM_004977	NP_004968	Q14003	KCNC3_HUMAN	Shaw-related voltage-gated potassium channel	706	Cytoplasmic (Potential).				cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity			pancreas(1)	1		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		GGAGGAAGCAGGCTCGGTCCC	0.652													11	32					0	0	0.008291	0	0
KCNC3	3748	broad.mit.edu	37	19	50827210	50827210	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:50827210G>A	uc002pru.1	-	2	1295	c.1000C>T	c.(1000-1002)CCG>TCG	p.P334S	KCNC3_uc002prt.1_5'UTR	NM_004977	NP_004968	Q14003	KCNC3_HUMAN	Shaw-related voltage-gated potassium channel	334					cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity			pancreas(1)	1		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		ATGTTCTCCGGAGGTGCCCCG	0.597													10	32					0	0	0.006214	0	0
NAPSA	9476	broad.mit.edu	37	19	50863086	50863086	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:50863086G>A	uc002prx.2	-	6	755	c.702C>T	c.(700-702)GTC>GTT	p.V234V	NR1H2_uc002prv.3_Intron	NM_004851	NP_004842	O96009	NAPSA_HUMAN	napsin A preproprotein	234					proteolysis	extracellular region	aspartic-type endopeptidase activity				0		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		AGCCCCCCAGGACCAGCTCTC	0.617													20	50					0	0	0.001523	0	0
C19orf63	284361	broad.mit.edu	37	19	50983406	50983406	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:50983406C>T	uc002psl.2	+	4	402	c.336C>T	c.(334-336)ATC>ATT	p.I112I	C19orf63_uc002psj.2_Silent_p.I112I|C19orf63_uc002psk.2_Silent_p.I112I	NM_206538	NP_996261	Q5UCC4	INM02_HUMAN	hematopoietic signal peptide-containing isoform	112	Extracellular (Potential).					extracellular region|integral to membrane					0		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00733)|GBM - Glioblastoma multiforme(134;0.0252)		GGGTCCGGATCCCAAGGCGAC	0.637													5	22					0	0	0.000602	0	0
LRRC4B	94030	broad.mit.edu	37	19	51022661	51022661	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:51022661C>T	uc002pss.2	-	3	446	c.309G>A	c.(307-309)ACG>ACA	p.T103T		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B precursor	103	LRR 1.|Extracellular (Potential).					cell junction|integral to membrane|presynaptic membrane				central_nervous_system(1)|skin(1)	2		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		TGAACGTGTCCGTCCGGATCA	0.652													4	6					0	0	0.000248	0	0
SYT3	84258	broad.mit.edu	37	19	51135610	51135610	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:51135610G>A	uc002pst.2	-	2	1241	c.607C>T	c.(607-609)CCC>TCC	p.P203S	SYT3_uc002psv.2_Missense_Mutation_p.P203S|SYT3_uc010ycd.1_Missense_Mutation_p.P203S	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN	synaptotagmin III	203	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)		CCACCACTGGGGGGCAGCAGG	0.652													7	35					0	0	0.001984	0	0
KLK1	3816	broad.mit.edu	37	19	51323580	51323580	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:51323580T>G	uc002ptk.1	-	3	365	c.326A>C	c.(325-327)CAC>CCC	p.H109P	KLK1_uc010ycg.1_RNA	NM_002257	NP_002248	P06870	KLK1_HUMAN	kallikrein 1 preproprotein	109	Peptidase S1.				proteolysis	nucleus	serine-type endopeptidase activity				0		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTGGCGGGTGTGGTTCTCCAG	0.557													43	88					0	0	0.002852	0	0
KLK1	3816	broad.mit.edu	37	19	51326959	51326959	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:51326959C>T	uc002ptk.1	-	1	85	c.46G>A	c.(46-48)GGT>AGT	p.G16S	KLK1_uc010ycg.1_RNA	NM_002257	NP_002248	P06870	KLK1_HUMAN	kallikrein 1 preproprotein	16					proteolysis	nucleus	serine-type endopeptidase activity				0		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACTGTCTCACCAGTCCCCCCC	0.652													17	21					0	0	0.004990	0	0
KLK6	5653	broad.mit.edu	37	19	51465061	51465061	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:51465061C>T	uc002pui.2	-	6	781	c.521G>A	c.(520-522)GGC>GAC	p.G174D	KLK6_uc010eoj.2_Intron|KLK6_uc002puh.2_Missense_Mutation_p.G183D|KLK6_uc002puj.2_Missense_Mutation_p.G67D|KLK6_uc010ycn.1_Missense_Mutation_p.G67D|KLK6_uc002pul.2_Missense_Mutation_p.G174D|KLK6_uc002pum.2_Missense_Mutation_p.G67D	NM_001012964	NP_001012982	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6 isoform A	174	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		GGTGATCTGGCCAGGGTAGGC	0.527													11	39					0	0	0.000978	0	0
KLK8	11202	broad.mit.edu	37	19	51501066	51501066	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:51501066C>T	uc002pur.1	-	5	747	c.568G>A	c.(568-570)GGG>AGG	p.G190R	KLK8_uc002puq.1_Missense_Mutation_p.G235R|KLK8_uc002pus.1_Missense_Mutation_p.G49R|KLK8_uc002put.1_Intron|KLK8_uc002puu.1_Missense_Mutation_p.G190R|KLK9_uc002puv.1_RNA	NM_007196	NP_009127	O60259	KLK8_HUMAN	kallikrein 8 isoform 1 preproprotein	190	Peptidase S1.				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)	1		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		GTGATCTGCCCCGGGTAAGCA	0.502													32	60					0	0	0.004289	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51633198	51633198	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:51633198C>T	uc002pvu.2	+	7	1321	c.1254C>T	c.(1252-1254)CCC>CCT	p.P418P	SIGLEC9_uc010yct.1_Intron	NM_014441	NP_055256	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9 precursor	418	Cytoplasmic (Potential).				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			skin(1)	1		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		ACCAGCCTCCCCCAGCTTCTG	0.602													23	56					0	0	0.002780	0	0
IGLON5	402665	broad.mit.edu	37	19	51828705	51828705	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:51828705G>A	uc002pwc.2	+	4	497	c.497G>A	c.(496-498)TGG>TAG	p.W166*		NM_001101372	NP_001094842	A6NGN9	IGLO5_HUMAN	IgLON family member 5 precursor	166	Ig-like C2-type 2.					extracellular region					0						ACGGTCACCTGGAGACAGCTC	0.637													4	14					0	0	0.000248	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51914608	51914608	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:51914608C>T	uc002pwo.2	-	11	2455	c.1839G>A	c.(1837-1839)CAG>CAA	p.Q613Q	SIGLEC10_uc002pwp.2_Silent_p.Q555Q|SIGLEC10_uc002pwq.2_Silent_p.Q460Q|SIGLEC10_uc002pwr.2_Silent_p.Q518Q|SIGLEC10_uc010ycy.1_Silent_p.Q428Q|SIGLEC10_uc010ycz.1_Silent_p.Q470Q|SIGLEC10_uc010eow.2_Silent_p.Q330Q	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10 precursor	613	Cytoplasmic (Potential).				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			skin(1)	1		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GTGTGGCTTTCTGATTCCGCT	0.373													21	56					0	0	0.001882	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51960483	51960483	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:51960483G>A	uc002pwt.2	-	3	803	c.736C>T	c.(736-738)CCT>TCT	p.P246S	SIGLEC8_uc010yda.1_Intron|SIGLEC8_uc002pwu.2_RNA|SIGLEC8_uc010eox.2_Missense_Mutation_p.P153S	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8 precursor	246	Extracellular (Potential).|Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			ovary(2)|kidney(1)|central_nervous_system(1)|skin(1)	5		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TTCCAAGGAGGGTCTGGGACA	0.557													18	30					0	0	0.008871	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51960867	51960867	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:51960867G>A	uc002pwt.2	-	2	648	c.581C>T	c.(580-582)GCC>GTC	p.A194V	SIGLEC8_uc010yda.1_Intron|SIGLEC8_uc002pwu.2_RNA|SIGLEC8_uc010eox.2_Intron	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8 precursor	194	Ig-like C2-type 1.|Extracellular (Potential).				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			ovary(2)|kidney(1)|central_nervous_system(1)|skin(1)	5		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GGACACGGAGGCCCCAATCCA	0.652													10	35					0	0	0.008291	0	0
ZNF175	7728	broad.mit.edu	37	19	52090197	52090197	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:52090197T>G	uc002pxb.2	+	5	991	c.613T>G	c.(613-615)TTG>GTG	p.L205V		NM_007147	NP_009078	Q9Y473	ZN175_HUMAN	zinc finger protein 175	205					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		TACAGAAAGTTTGAAGCTGAA	0.438													18	52					0	0	0.006122	0	0
HAS1	3036	broad.mit.edu	37	19	52217264	52217264	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:52217264G>A	uc002pxo.1	-	5	1188	c.1153C>T	c.(1153-1155)CGT>TGT	p.R385C	HAS1_uc010epc.1_5'UTR|HAS1_uc010epd.1_3'UTR|HAS1_uc002pxn.1_Missense_Mutation_p.R392C|HAS1_uc002pxp.1_Missense_Mutation_p.R384C	NM_001523	NP_001514	Q92839	HAS1_HUMAN	hyaluronan synthase 1	385	Cytoplasmic (Potential).				cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			ovary(1)|pancreas(1)	2		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		AGCCACTCACGGAAGTACGAC	0.652													7	26					0	0	0.001984	0	0
ZNF432	9668	broad.mit.edu	37	19	52537028	52537028	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:52537028G>A	uc002pyk.2	-	5	2222	c.1904C>T	c.(1903-1905)TCC>TTC	p.S635F		NM_014650	NP_055465	O94892	ZN432_HUMAN	zinc finger protein 432	635	C2H2-type 16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|pancreas(1)	3		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TCTCTTTGAGGAGAAGGCTTT	0.413													42	126					0	0	0.002222	0	0
ZNF600	162966	broad.mit.edu	37	19	53269181	53269181	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:53269181A>T	uc002qab.3	-	3	2114	c.1828T>A	c.(1828-1830)TAC>AAC	p.Y610N		NM_198457	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	610	C2H2-type 17.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		TTACACTTGTAAGGTTTCTCT	0.383													34	86					0	0	0.002836	0	0
ZNF320	162967	broad.mit.edu	37	19	53383908	53383908	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:53383908G>A	uc002qag.2	-	4	1662	c.1471C>T	c.(1471-1473)CCT>TCT	p.P491S	ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Missense_Mutation_p.P437S|ZNF320_uc002qai.2_Missense_Mutation_p.P491S	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN	zinc finger protein 320	491	C2H2-type 12; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0534)		TCTCCAAAAGGAATTTTCTGA	0.393													21	43					0	0	0.002299	0	0
ZNF415	55786	broad.mit.edu	37	19	53612707	53612707	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:53612707G>A	uc002qax.2	-	7	1084	c.735C>T	c.(733-735)TTC>TTT	p.F245F	ZNF415_uc002qat.2_Silent_p.F209F|ZNF415_uc002qaw.2_Silent_p.F197F|ZNF415_uc010yds.1_Silent_p.F197F|ZNF415_uc010ydt.1_Silent_p.F197F|ZNF415_uc002qau.2_Silent_p.F184F|ZNF415_uc002qav.2_Silent_p.F209F|ZNF415_uc002qba.2_5'UTR|ZNF415_uc002qay.2_Silent_p.F184F|ZNF415_uc002qaz.2_Silent_p.F245F	NR_028343		Q09FC8	ZN415_HUMAN	RecName: Full=Zinc finger protein 415;	245					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.0191)		AAGAACAGATGAAATCAGTCC	0.378													24	59					0	0	0.003954	0	0
VN1R2	317701	broad.mit.edu	37	19	53762659	53762659	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:53762659C>T	uc002qbi.2	+	1	1115	c.1031C>T	c.(1030-1032)TCC>TTC	p.S344F		NM_173856	NP_776255	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	344	Extracellular (Potential).				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity				0				GBM - Glioblastoma multiforme(134;0.00301)		TTCGATAATTCCAGTTGGTGG	0.463													49	121					0	0	0.003610	0	0
ZNF813	126017	broad.mit.edu	37	19	53994678	53994678	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:53994678C>T	uc002qbu.2	+	4	1320	c.1192C>T	c.(1192-1194)CTT>TTT	p.L398F	ZNF813_uc010eqq.1_Intron	NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	398	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		GGAGTTAACCCTTAAATGCCA	0.413													15	38					0	0	0.004990	0	0
ZNF331	55422	broad.mit.edu	37	19	54080316	54080316	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:54080316T>G	uc002qbx.1	+	7	1936	c.502T>G	c.(502-504)TTC>GTC	p.F168V	ZNF331_uc002qby.1_Missense_Mutation_p.F168V|ZNF331_uc002qbz.1_Missense_Mutation_p.F168V|ZNF331_uc002qca.1_Missense_Mutation_p.F168V|ZNF331_uc010eqr.1_Missense_Mutation_p.F168V|ZNF331_uc002qcb.1_Missense_Mutation_p.F168V|ZNF331_uc002qcc.1_Missense_Mutation_p.F168V|ZNF331_uc002qcd.1_Missense_Mutation_p.F168V	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	168	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)	6				GBM - Glioblastoma multiforme(134;0.00555)		TAAGAAGGCCTTCCGTTGGGG	0.443			T	?	follicular thyroid adenoma								28	94					0	0	0.008361	0	0
MIR512-2	574459	broad.mit.edu	37	19	54172485	54172485	+	RNA	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:54172485G>A	hsa-mir-512-2|MI0003141	+			c.75G>A			MIR1323_hsa-mir-1323|MI0003786_5'Flank																	0						TCATAGCTGAGGTCCAATGAC	0.567													23	36					0	0	0.002096	0	0
LILRB3	11025	broad.mit.edu	37	19	54724529	54724529	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:54724529T>A	uc002qef.1	-	6	1238	c.1127A>T	c.(1126-1128)AAG>ATG	p.K376M	LILRB3_uc002qee.1_Missense_Mutation_p.K376M|LILRB3_uc002qeh.1_Missense_Mutation_p.K376M|LILRB3_uc002qeg.1_RNA|LILRB3_uc002qei.1_Missense_Mutation_p.K376M|LILRA6_uc002qek.1_Intron|LILRB3_uc010erh.1_Missense_Mutation_p.K376M|LILRB3_uc002qej.1_RNA|LILRA6_uc002qel.1_Intron|LILRA6_uc002qem.1_Intron|LILRB3_uc002qen.1_Intron|LILRB3_uc002qeo.1_Missense_Mutation_p.K376M|LILRB3_uc002qep.1_Missense_Mutation_p.K376M|LILRB3_uc002qeq.1_Missense_Mutation_p.K376M|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Missense_Mutation_p.K376M|LILRA6_uc010yep.1_Intron|LILRA6_uc010yeq.1_Intron	NM_006864	NP_006855	O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor,	376	Extracellular (Potential).|Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			skin(2)|ovary(1)	3	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AGCCTGGTACTTATGAGCTCC	0.567													8	28					0	0	0.004990	0	0
LILRA6	79168	broad.mit.edu	37	19	54745664	54745664	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:54745664C>T	uc002qeu.1	-	4	570	c.446G>A	c.(445-447)GGA>GAA	p.G149E	LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Missense_Mutation_p.G149E|LILRA6_uc002qek.1_Missense_Mutation_p.G149E|LILRB3_uc010erh.1_Intron|LILRB3_uc002qej.1_RNA|LILRA6_uc002qel.1_Missense_Mutation_p.G149E|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Missense_Mutation_p.G149E|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Missense_Mutation_p.G149E|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Missense_Mutation_p.G149E|LILRA6_uc010yep.1_Missense_Mutation_p.G149E|LILRA6_uc010yeq.1_Missense_Mutation_p.G149E|LILRA6_uc002qet.3_RNA|LILRA6_uc002qev.1_Missense_Mutation_p.G10E	NM_024318	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor,	149	Extracellular (Potential).					integral to membrane	receptor activity			skin(2)	2	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ATGGTGATATCCCTTCTGTGA	0.582													9	36					0	0	0.001368	0	0
LILRA5	353514	broad.mit.edu	37	19	54823372	54823372	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:54823372G>A	uc002qfe.2	-	4	291	c.171C>T	c.(169-171)ATC>ATT	p.I57I	LILRA5_uc002qff.2_Silent_p.I45I|LILRA5_uc010yev.1_Silent_p.I57I|LILRA5_uc010yew.1_Silent_p.I45I|LILRA5_uc002qfh.1_Silent_p.I45I|LILRA5_uc002qfg.1_Silent_p.I57I	NM_021250	NP_067073	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor subfamily	57	Extracellular (Potential).|Ig-like C2-type 1.				innate immune response	extracellular region|integral to membrane	receptor activity			upper_aerodigestive_tract(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCCCCCGGCTGATCACAGAGC	0.607													8	56					0	0	0.004482	0	0
LILRA2	11027	broad.mit.edu	37	19	55086332	55086332	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:55086332C>T	uc002qgg.3	+	4	576	c.487C>T	c.(487-489)CCA>TCA	p.P163S	LILRA2_uc010ern.2_Missense_Mutation_p.P163S|LILRA2_uc002qgf.2_Missense_Mutation_p.P163S|LILRA2_uc010yfe.1_Missense_Mutation_p.P163S|LILRA2_uc010yff.1_Missense_Mutation_p.P151S|LILRA2_uc010ero.2_Missense_Mutation_p.P151S|LILRA2_uc010yfg.1_Missense_Mutation_p.P163S	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor,	163	Extracellular (Potential).|Ig-like C2-type 2.				defense response	integral to membrane	antigen binding|receptor activity			ovary(1)	1				GBM - Glioblastoma multiforme(193;0.0963)		AGATGAACACCCACAACGCCT	0.592													27	58					0	0	0.007291	0	0
LILRA1	11024	broad.mit.edu	37	19	55106306	55106306	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:55106306T>C	uc002qgh.1	+	4	429	c.247T>C	c.(247-249)TTC>CTC	p.F83L	LILRA2_uc010yfg.1_Intron|LILRA1_uc010yfh.1_Missense_Mutation_p.F83L	NM_006863	NP_006854	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor,	83	Ig-like C2-type 1.|Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			skin(2)|ovary(1)	3				GBM - Glioblastoma multiforme(193;0.0348)		GAAGGGCCAGTTCCCCATCCC	0.562													31	43					0	0	0.003271	0	0
LILRB1	10859	broad.mit.edu	37	19	55143575	55143575	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:55143575C>T	uc002qgj.2	+	6	888	c.548C>T	c.(547-549)TCC>TTC	p.S183F	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.2_Missense_Mutation_p.S183F|LILRB1_uc002qgk.2_Missense_Mutation_p.S183F|LILRB1_uc002qgm.2_Missense_Mutation_p.S183F|LILRB1_uc010erq.2_Missense_Mutation_p.S183F|LILRB1_uc010err.2_RNA	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor,	183	Ig-like C2-type 2.|Extracellular (Potential).				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			large_intestine(1)|ovary(1)|skin(1)	3				GBM - Glioblastoma multiforme(193;0.0188)		GCCATCTTCTCCGTGGGCCCC	0.577										HNSCC(37;0.09)			26	77					0	0	0.005443	0	0
LILRP2	79166	broad.mit.edu	37	19	55224626	55224626	+	RNA	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:55224626G>A	uc002qgs.1	+	1		c.5026G>A			LILRP2_uc002qgt.1_RNA	NR_003061				Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA.												0						ACACAGTGGAGAATCTCATCC	0.582													4	14					0	0	0.000602	0	0
KIR2DL4	3805	broad.mit.edu	37	19	55325198	55325198	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:55325198G>A	uc010yfm.1	+	9	904	c.864_splice	c.e9+1	p.E288_splice	KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR2DL4_uc010yfl.1_Splice_Site_p.E305_splice|KIR2DL4_uc002qhg.2_Splice_Site_p.E253_splice|KIR2DL4_uc002qhi.2_Splice_Site|KIR2DL4_uc002qhh.2_Splice_Site_p.E158_splice|KIR2DL4_uc002qhj.2_Splice_Site_p.E236_splice|KIR2DL4_uc002qhf.2_Splice_Site_p.E141_splice|KIR2DL4_uc010esd.2_Intron|KIR2DL4_uc010ese.2_Splice_Site|KIR3DL1_uc010yfn.1_5'Flank|KIR3DL1_uc010esf.2_5'Flank|KIR3DL1_uc002qhk.3_5'Flank|KIR3DL1_uc010yfo.1_5'Flank|KIR3DL1_uc002qhl.3_5'Flank	NM_002255	NP_002246	Q99706	KI2L4_HUMAN	killer cell immunoglobulin-like receptor, two						cellular defense response|regulation of immune response	integral to plasma membrane	protein binding|transmembrane receptor activity			ovary(1)	1				GBM - Glioblastoma multiforme(193;0.0192)		GAACAGGGAGGTAGGTCCTCC	0.517													20	17					0	0	0.002780	0	0
NLRP7	199713	broad.mit.edu	37	19	55451034	55451034	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:55451034G>A	uc002qih.3	-	4	1229	c.1153C>T	c.(1153-1155)CCC>TCC	p.P385S	NLRP7_uc002qig.3_Missense_Mutation_p.P385S|NLRP7_uc002qii.3_Missense_Mutation_p.P385S|NLRP7_uc010esk.2_Missense_Mutation_p.P385S|NLRP7_uc010esl.2_Missense_Mutation_p.P413S	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	385	NACHT.						ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(193;0.0325)		AGGCAGGTGGGGACCGGGTCC	0.701													9	15					0	0	0.000978	0	0
NLRP7	199713	broad.mit.edu	37	19	55451699	55451699	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:55451699G>A	uc002qih.3	-	4	564	c.488C>T	c.(487-489)CCC>CTC	p.P163L	NLRP7_uc002qig.3_Missense_Mutation_p.P163L|NLRP7_uc002qii.3_Missense_Mutation_p.P163L|NLRP7_uc010esk.2_Missense_Mutation_p.P163L|NLRP7_uc010esl.2_Missense_Mutation_p.P191L	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	163							ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(193;0.0325)		GGGTGTTCTGGGATTCAAGAA	0.517													53	124					0	0	0.003610	0	0
NLRP2	55655	broad.mit.edu	37	19	55493645	55493645	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:55493645C>T	uc002qij.2	+	6	665	c.579C>T	c.(577-579)ATC>ATT	p.I193I	NLRP2_uc010yfp.1_Silent_p.I170I|NLRP2_uc010esn.2_Silent_p.I169I|NLRP2_uc010eso.2_Silent_p.I190I|NLRP2_uc010esp.2_Silent_p.I171I	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	193					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AGATGCTGATCCCATTCAGCA	0.537													37	113					0	0	0.006999	0	0
NLRP9	338321	broad.mit.edu	37	19	56244544	56244544	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:56244544G>A	uc002qly.2	-	2	681	c.653C>T	c.(652-654)TCC>TTC	p.S218F		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	218	NACHT.					cytoplasm	ATP binding			skin(4)|ovary(2)|breast(1)	7		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CTCTGGCTGGGAAAAAATGTC	0.478													10	24					0	0	0.000978	0	0
NLRP11	204801	broad.mit.edu	37	19	56321627	56321627	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:56321627G>A	uc010ygf.1	-	5	1060	c.349C>T	c.(349-351)CAT>TAT	p.H117Y	NLRP11_uc002qlz.2_Missense_Mutation_p.H18Y|NLRP11_uc002qmb.2_Missense_Mutation_p.H18Y|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA	NM_145007	NP_659444	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	117							ATP binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		AATTTATAATGAAATTTTCCA	0.388													10	30					0	0	0.000978	0	0
NLRP4	147945	broad.mit.edu	37	19	56369100	56369100	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:56369100A>T	uc002qmd.3	+	3	763	c.341A>T	c.(340-342)AAG>ATG	p.K114M	NLRP4_uc002qmf.2_Missense_Mutation_p.K39M|NLRP4_uc010etf.2_Translation_Start_Site	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	114							ATP binding			ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TGGTCCAGCAAGTCTGTCACT	0.473													8	75					0	0	0.006214	0	0
NLRP13	126204	broad.mit.edu	37	19	56413448	56413448	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:56413448G>A	uc010ygg.1	-	9	2767	c.2742C>T	c.(2740-2742)TTC>TTT	p.F914F		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	NACHT, leucine rich repeat and PYD containing	914	LRR 4.						ATP binding			skin(4)|ovary(3)|pancreas(1)|lung(1)	9		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CCTCACACAGGAACTTGACTC	0.547													15	46					0	0	0.002450	0	0
NLRP13	126204	broad.mit.edu	37	19	56424257	56424257	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:56424257A>T	uc010ygg.1	-	5	951	c.926T>A	c.(925-927)ATT>AAT	p.I309N		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	NACHT, leucine rich repeat and PYD containing	309	NACHT.						ATP binding			skin(4)|ovary(3)|pancreas(1)|lung(1)	9		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GCCATCAATAATAAACAGGAG	0.453													9	41					0	0	0.006214	0	0
NLRP13	126204	broad.mit.edu	37	19	56424463	56424463	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:56424463C>T	uc010ygg.1	-	5	745	c.720G>A	c.(718-720)GGG>GGA	p.G240G		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	NACHT, leucine rich repeat and PYD containing	240	NACHT.|ATP (Potential).						ATP binding			skin(4)|ovary(3)|pancreas(1)|lung(1)	9		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		AGGTGGTCTTCCCAACCCCTG	0.507													20	82					0	0	0.002299	0	0
NLRP8	126205	broad.mit.edu	37	19	56466513	56466513	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:56466513C>T	uc002qmh.2	+	3	1160	c.1089C>T	c.(1087-1089)ATC>ATT	p.I363I	NLRP8_uc010etg.2_Silent_p.I363I	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	363	NACHT.					cytoplasm	ATP binding			ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TGGAAAAAATCAAGTATTTCC	0.458													22	45					0	0	0.001523	0	0
NLRP8	126205	broad.mit.edu	37	19	56467089	56467089	+	Missense_Mutation	SNP	G	A	A	rs149835864		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:56467089G>A	uc002qmh.2	+	3	1736	c.1665G>A	c.(1663-1665)ATG>ATA	p.M555I	NLRP8_uc010etg.2_Missense_Mutation_p.M555I	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	555						cytoplasm	ATP binding			ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TCTCTCACATGGGACTTTTCT	0.468													19	33					0	0	0.006122	0	0
ZNF582	147948	broad.mit.edu	37	19	56895604	56895604	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:56895604G>A	uc002qmz.1	-	5	1341	c.1182C>T	c.(1180-1182)CCC>CCT	p.P394P	ZNF582_uc002qmy.2_Silent_p.P425P	NM_144690	NP_653291	Q96NG8	ZN582_HUMAN	zinc finger protein 582	394					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|large_intestine(1)	4		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		TACATTGGTAGGGTTTCTCTC	0.423													25	49					0	0	0.004656	0	0
ZNF470	388566	broad.mit.edu	37	19	57089348	57089348	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:57089348C>T	uc002qnl.3	+	6	2227	c.1551C>T	c.(1549-1551)ACC>ACT	p.T517T	ZNF470_uc010etn.2_Intron	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	517	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		GCAGCAAAACCTTCAGCCAGA	0.453													12	26					0	0	0.001855	0	0
PEG3	5178	broad.mit.edu	37	19	57325417	57325417	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:57325417C>T	uc002qnu.2	-	7	4744	c.4393G>A	c.(4393-4395)GCT>ACT	p.A1465T	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.A1436T|PEG3_uc002qnv.2_Missense_Mutation_p.A1465T|PEG3_uc002qnw.2_Missense_Mutation_p.A1341T|PEG3_uc002qnx.2_Missense_Mutation_p.A1339T|PEG3_uc010etr.2_Missense_Mutation_p.A1465T	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	1465	Glu-rich.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GGCTCTTCAGCTCTTTCTTCT	0.542													26	77					0	0	0.007291	0	0
PEG3	5178	broad.mit.edu	37	19	57326279	57326279	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:57326279G>A	uc002qnu.2	-	7	3882	c.3531C>T	c.(3529-3531)TTC>TTT	p.F1177F	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Silent_p.F1148F|PEG3_uc002qnv.2_Silent_p.F1177F|PEG3_uc002qnw.2_Silent_p.F1053F|PEG3_uc002qnx.2_Silent_p.F1051F|PEG3_uc010etr.2_Silent_p.F1177F	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	1177	C2H2-type 7.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GCTCGAAAAGGAATGAGCTAT	0.443													32	67					0	0	0.002445	0	0
PEG3	5178	broad.mit.edu	37	19	57328744	57328744	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:57328744T>C	uc002qnu.2	-	7	1417	c.1066A>G	c.(1066-1068)AAG>GAG	p.K356E	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.K327E|PEG3_uc002qnv.2_Missense_Mutation_p.K356E|PEG3_uc002qnw.2_Missense_Mutation_p.K232E|PEG3_uc002qnx.2_Missense_Mutation_p.K230E|PEG3_uc010etr.2_Missense_Mutation_p.K356E	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	356					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GACTCCCTCTTGTTCAATGAA	0.468													11	40					0	0	0.001855	0	0
USP29	57663	broad.mit.edu	37	19	57640194	57640194	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:57640194T>C	uc002qny.2	+	4	507	c.151T>C	c.(151-153)TTT>CTT	p.F51L		NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	51					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(6)|ovary(2)|breast(2)|pancreas(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TATAAGAATTTTTCAGCTGAG	0.343													14	20					0	0	0.002450	0	0
USP29	57663	broad.mit.edu	37	19	57640539	57640539	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:57640539G>A	uc002qny.2	+	4	852	c.496G>A	c.(496-498)GGT>AGT	p.G166S		NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	166					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(6)|ovary(2)|breast(2)|pancreas(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGAAAATCAAGGTGGGAAGGG	0.363													34	67					0	0	0.002836	0	0
USP29	57663	broad.mit.edu	37	19	57641002	57641002	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:57641002G>A	uc002qny.2	+	4	1315	c.959G>A	c.(958-960)TGG>TAG	p.W320*		NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	320					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(6)|ovary(2)|breast(2)|pancreas(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGTGTCCCATGGGAATATATT	0.393													26	52					0	0	0.007291	0	0
ZNF549	256051	broad.mit.edu	37	19	58049273	58049273	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:58049273G>A	uc002qpb.1	+	4	1150	c.901G>A	c.(901-903)GAA>AAA	p.E301K	ZNF547_uc002qpm.3_Intron|ZNF549_uc010eud.1_Intron|ZNF549_uc002qpa.1_Missense_Mutation_p.E288K	NM_153263	NP_694995	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	301					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCACACTAGAGAAAGGTCTTA	0.423													13	42					0	0	0.002450	0	0
ZSCAN18	65982	broad.mit.edu	37	19	58600174	58600174	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:58600174G>A	uc002qri.2	-	3	743	c.434C>T	c.(433-435)TCC>TTC	p.S145F	ZSCAN18_uc002qrj.3_Missense_Mutation_p.S145F|ZSCAN18_uc010yhs.1_Missense_Mutation_p.S10F|ZSCAN18_uc002qrh.2_Missense_Mutation_p.S145F|ZSCAN18_uc010yht.1_Missense_Mutation_p.S201F|ZSCAN18_uc002qrk.1_Missense_Mutation_p.S145F|ZSCAN18_uc002qrl.2_Missense_Mutation_p.S145F	NM_001145543	NP_001139015	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	145					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		AAGAATTGAGGATGAGCCCGC	0.597													12	42					0	0	0.001855	0	0
ZNF324B	388569	broad.mit.edu	37	19	58966929	58966929	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:58966929C>T	uc002qsv.1	+	4	725	c.618C>T	c.(616-618)GCC>GCT	p.A206A	ZNF324B_uc002qsu.1_Silent_p.A196A|ZNF324B_uc010euq.1_Silent_p.A206A	NM_207395	NP_997278	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	206					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CTGGGAGAGCCTTCGGGAATG	0.657													7	22					0	0	0.004482	0	0
ZNF324	25799	broad.mit.edu	37	19	58982241	58982241	+	Missense_Mutation	SNP	G	A	A	rs147519125	byFrequency	TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:58982241G>A	uc002qsw.1	+	4	476	c.382G>A	c.(382-384)GCC>ACC	p.A128T	ZNF324_uc002qsx.1_5'Flank	NM_014347	NP_055162	O75467	Z324A_HUMAN	zinc finger protein 324	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		ACAACGGGGTGCCTCCCCATC	0.617													22	50					0	0	0.002780	0	0
TPO	7173	broad.mit.edu	37	2	1520668	1520668	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:1520668C>T	uc002qww.2	+	15	2623	c.2532C>T	c.(2530-2532)CTC>CTT	p.L844L	TPO_uc010ewj.2_RNA|TPO_uc002qwu.2_Silent_p.L787L|TPO_uc002qwr.2_Silent_p.L844L|TPO_uc002qwx.2_Silent_p.L787L|TPO_uc010yio.1_Silent_p.L671L|TPO_uc010yip.1_Silent_p.L800L|TPO_uc002qwy.1_Silent_p.L140L|TPO_uc002qwz.2_RNA	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	844	Extracellular (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CCGGGAGGCTCCCTCGGGTGA	0.602													6	38					0	0	0.001984	0	0
PXDN	7837	broad.mit.edu	37	2	1687478	1687478	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:1687478A>C	uc002qxa.2	-	6	574	c.510T>G	c.(508-510)ATT>ATG	p.I170M	PXDN_uc002qxb.1_Missense_Mutation_p.I170M|PXDN_uc002qxc.1_Translation_Start_Site	NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	170	LRR 4.				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)		CTAAATGTGTAATCCGGTTGT	0.299													15	31					0	0	0.003163	0	0
MYT1L	23040	broad.mit.edu	37	2	1926536	1926536	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:1926536G>A	uc002qxe.2	-	10	1832	c.1005C>T	c.(1003-1005)TTC>TTT	p.F335F	MYT1L_uc002qxd.2_Silent_p.F335F|MYT1L_uc010ewl.1_RNA	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	335					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|central_nervous_system(1)	6	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TGGCCAGGTCGAAGCACTGAT	0.562													22	26					0	0	0.002780	0	0
ODC1	4953	broad.mit.edu	37	2	10583694	10583694	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:10583694G>A	uc010exg.1	-	7	1022	c.588C>T	c.(586-588)TTC>TTT	p.F196F	ODC1_uc002ran.1_5'Flank|ODC1_uc002rao.1_Silent_p.F196F|ODC1_uc010yjd.1_Silent_p.F66F	NM_002539	NP_002530	P11926	DCOR_HUMAN	ornithine decarboxylase 1	196					polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding			ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)	TTCCTACATGGAAGCTGGGGT	0.443													29	49					0	0	0.008361	0	0
KCNF1	3754	broad.mit.edu	37	2	11053984	11053984	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:11053984C>T	uc002rax.2	+	1	1922	c.1432C>T	c.(1432-1434)CCC>TCC	p.P478S		NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F,	478	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		CACCTTCATCCCCCTCCTGAC	0.662													9	19					0	0	0.006214	0	0
ROCK2	9475	broad.mit.edu	37	2	11332715	11332715	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:11332715G>A	uc002rbd.1	-	31	4260	c.3811C>T	c.(3811-3813)CCA>TCA	p.P1271S		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein	1271	PH.|Phorbol-ester/DAG-type.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			stomach(2)|skin(2)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		CAGTTGGTTGGGAAATGATAA	0.423													12	24					0	0	0.000978	0	0
NTSR2	23620	broad.mit.edu	37	2	11802205	11802205	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:11802205G>A	uc002rbq.3	-	2	860	c.786C>T	c.(784-786)CTC>CTT	p.L262L		NM_012344	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	262	Cytoplasmic (Potential).				sensory perception	integral to plasma membrane					0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	TGAAGCTGAGGAGACCCTCCT	0.637													23	69					0	0	0.003330	0	0
NT5C1B	93034	broad.mit.edu	37	2	18768307	18768307	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:18768307G>A	uc002rcz.2	-	3	357	c.253C>T	c.(253-255)CAC>TAC	p.H85Y	NT5C1B_uc002rcy.2_Missense_Mutation_p.H85Y|NT5C1B_uc010exr.2_Intron|NT5C1B_uc010yju.1_Intron|NT5C1B_uc002rda.2_Intron|NT5C1B_uc010yjv.1_Missense_Mutation_p.H85Y|NT5C1B_uc010yjw.1_Missense_Mutation_p.H68Y|NT5C1B_uc010exs.2_Missense_Mutation_p.H85Y|NT5C1B_uc002rdb.1_5'Flank	NM_001002006	NP_001002006	Q96P26	5NT1B_HUMAN	5' nucleotidase, cytosolic IB isoform 1	85					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			skin(2)|ovary(1)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				AGGCACATGTGAATATAAATA	0.552													9	24					0	0	0.006214	0	0
PUM2	23369	broad.mit.edu	37	2	20463104	20463104	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:20463104G>A	uc002rds.1	-	13	2098	c.2075C>T	c.(2074-2076)CCT>CTT	p.P692L	PUM2_uc002rdq.1_Missense_Mutation_p.P69L|PUM2_uc002rdt.1_Missense_Mutation_p.P692L|PUM2_uc002rdr.2_Missense_Mutation_p.P552L|PUM2_uc010yjy.1_Missense_Mutation_p.P613L|PUM2_uc002rdu.1_Missense_Mutation_p.P692L|PUM2_uc010yjz.1_Missense_Mutation_p.P631L	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN	pumilio homolog 2	692					regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGCCGGGAAGGAGGAAAGAG	0.463													10	30					0	0	0.008291	0	0
APOB	338	broad.mit.edu	37	2	21228679	21228679	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:21228679G>A	uc002red.2	-	26	11189	c.11061C>T	c.(11059-11061)TTC>TTT	p.F3687F		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	3687					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CCAGCTTTAGGAAATCCCATA	0.433													113	332					0	0	0.003610	0	0
APOB	338	broad.mit.edu	37	2	21239410	21239410	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:21239410C>T	uc002red.2	-	21	3361	c.3233G>A	c.(3232-3234)AGA>AAA	p.R1078K		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	1078					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATCATTAACTCTGAGGATTGT	0.448													145	318					0	0	0.003610	0	0
ITSN2	50618	broad.mit.edu	37	2	24428097	24428097	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:24428097G>A	uc002rfe.2	-	38	5006	c.4748C>T	c.(4747-4749)GCC>GTC	p.A1583V	ITSN2_uc002rff.2_Missense_Mutation_p.A1556V	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	intersectin 2 isoform 1	1583	C2.				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)					TGGTTTGCAGGCTTTTAATTC	0.398													18	31					0	0	0.001882	0	0
ASXL2	55252	broad.mit.edu	37	2	25972977	25972977	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:25972977G>A	uc002rgs.2	-	11	1669	c.1448C>T	c.(1447-1449)CCA>CTA	p.P483L	ASXL2_uc002rgt.1_Missense_Mutation_p.P223L	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	additional sex combs like 2	483					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCATCCTTTGGGCACTTGAT	0.473													65	125					0	0	0.003610	0	0
EPT1	85465	broad.mit.edu	37	2	26587215	26587215	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:26587215C>T	uc010ykz.1	+	2	250	c.103C>T	c.(103-105)CCA>TCA	p.P35S	EPT1_uc010eyl.1_RNA	NM_033505	NP_277040	Q9C0D9	EPT1_HUMAN	selenoprotein I	35					phospholipid biosynthetic process	integral to membrane	ethanolaminephosphotransferase activity|metal ion binding				0						TGTCATGCATCCATTCTGGAA	0.299													3	5					0	0	0.004672	0	0
DPYSL5	56896	broad.mit.edu	37	2	27150136	27150136	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:27150136G>A	uc002rhu.3	+	4	594	c.436G>A	c.(436-438)GAG>AAG	p.E146K	DPYSL5_uc002rhv.3_Missense_Mutation_p.E146K	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	146					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCAGAAATGGAGACACTGGT	0.552													8	12					0	0	0.003080	0	0
ABHD1	84696	broad.mit.edu	37	2	27351330	27351330	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:27351330C>T	uc002rit.2	+	2	296	c.136C>T	c.(136-138)CCG>TCG	p.P46S	ABHD1_uc002riu.2_RNA|ABHD1_uc002riv.2_Intron	NM_032604	NP_115993	Q96SE0	ABHD1_HUMAN	abhydrolase domain-containing protein 1	46						integral to membrane	carboxylesterase activity				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTGGCTGGGCCGCAGTTTCT	0.572													16	47					0	0	0.003163	0	0
IFT172	26160	broad.mit.edu	37	2	27676933	27676933	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:27676933C>T	uc002rku.2	-	33	3678	c.3627G>A	c.(3625-3627)GGG>GGA	p.G1209G	IFT172_uc010ezb.2_RNA	NM_015662	NP_056477	Q9UG01	IF172_HUMAN	selective LIM binding factor homolog	1209					cilium assembly	cilium	binding			large_intestine(1)|ovary(1)	2	Acute lymphoblastic leukemia(172;0.155)					CCTCCAAGGCCCCCCGGGCCT	0.612													24	58					0	0	0.002299	0	0
GCKR	2646	broad.mit.edu	37	2	27720498	27720498	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:27720498G>A	uc002rky.2	+	3	351	c.285_splice	c.e3+1	p.K95_splice	FNDC4_uc002rkx.2_5'Flank|GCKR_uc010ezd.2_Splice_Site_p.K95_splice|GCKR_uc010ylu.1_Splice_Site	NM_001486	NP_001477	Q14397	GCKR_HUMAN	glucokinase regulatory protein						carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)					AGTGCTGAAGGTACTAACCTT	0.433													8	22					0	0	0.003080	0	0
FAM179A	165186	broad.mit.edu	37	2	29259574	29259574	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:29259574G>A	uc010ezl.2	+	18	2937	c.2586G>A	c.(2584-2586)GGG>GGA	p.G862G	FAM179A_uc010ymm.1_Silent_p.G807G|FAM179A_uc002rmr.3_Silent_p.G389G|FAM179A_uc002rms.1_Silent_p.G160G	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	hypothetical protein LOC165186	862							binding			ovary(3)|skin(1)	4						AGAACTCAGGGATTTACGCTG	0.577													6	21					0	0	0.001168	0	0
ALK	238	broad.mit.edu	37	2	29462661	29462661	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:29462661C>T	uc002rmy.2	-	13	3147	c.2240G>A	c.(2239-2241)GGG>GAG	p.G747E		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	anaplastic lymphoma kinase precursor	747	Extracellular (Potential).				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GGTGTTCTTCCCGCCTTTCCC	0.592			T|Mis|A	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	ALCL|NSCLC|Neuroblastoma	neuroblastoma			Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome				10	24					0	0	0.001368	0	0
SRD5A2	6716	broad.mit.edu	37	2	31754504	31754504	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:31754504C>T	uc002rnw.1	-	5	642	c.571G>A	c.(571-573)GGA>AGA	p.G191R		NM_000348	NP_000339	P31213	S5A2_HUMAN	3-oxo-5 alpha-steroid 4-dehydrogenase 2	191					androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity				0	Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)	AAATTGGCTCCAGAAACATAC	0.448													4	17					0	0	0.000248	0	0
BIRC6	57448	broad.mit.edu	37	2	32640055	32640055	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:32640055T>A	uc010ezu.2	+	10	1830	c.1696T>A	c.(1696-1698)TGT>AGT	p.C566S		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	566					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					TCCTTTTCCATGTTTATTAGC	0.393													10	33					0	0	0.006214	0	0
BIRC6	57448	broad.mit.edu	37	2	32740464	32740464	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:32740464T>A	uc010ezu.2	+	55	11110	c.10976T>A	c.(10975-10977)ATT>AAT	p.I3659N		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	3659					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					TCAATAGATATTTCCCAGGAC	0.438													11	18					0	0	0.008291	0	0
CRIM1	51232	broad.mit.edu	37	2	36774301	36774301	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:36774301G>A	uc002rpd.2	+	16	2960	c.2921G>A	c.(2920-2922)CGA>CAA	p.R974Q		NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN	cysteine-rich motor neuron 1 precursor	974	Cytoplasmic (Potential).				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				TGCTGGTATCGAACACCAACT	0.368													20	50					0	0	0.002299	0	0
VIT	5212	broad.mit.edu	37	2	37028483	37028483	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:37028483G>A	uc002rpl.2	+	13	1319	c.1098G>A	c.(1096-1098)ACG>ACA	p.T366T	VIT_uc002rpm.2_Silent_p.T344T|VIT_uc010ezv.2_Silent_p.T322T|VIT_uc010ezw.2_Silent_p.T323T	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	vitrin	351	VWFA 1.					proteinaceous extracellular matrix				ovary(1)|pancreas(1)	2		all_hematologic(82;0.248)				AGACACACACGAATTCTCGAG	0.393													58	178					0	0	0.003610	0	0
HEATR5B	54497	broad.mit.edu	37	2	37215935	37215935	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:37215935G>A	uc002rpp.1	-	35	5861	c.5765C>T	c.(5764-5766)CCT>CTT	p.P1922L	HEATR5B_uc002rpo.1_Missense_Mutation_p.P234L|HEATR5B_uc010ezy.1_Missense_Mutation_p.P417L	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1922							binding	p.P1922R(1)		ovary(5)|skin(2)|breast(1)	8		all_hematologic(82;0.21)				ATGAATATAAGGAGTTGAAAG	0.383													24	58					0	0	0.005443	0	0
SOS1	6654	broad.mit.edu	37	2	39213170	39213170	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:39213170G>A	uc002rrk.3	-	23	3838	c.3797C>T	c.(3796-3798)CCT>CTT	p.P1266L	SOS1_uc002rrj.3_Missense_Mutation_p.P865L	NM_005633	NP_005624	Q07889	SOS1_HUMAN	son of sevenless homolog 1	1266					apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			ovary(4)|breast(3)|lung(2)|central_nervous_system(1)	10		all_hematologic(82;0.21)				TGTGCCGTGAGGAGAAGGTGT	0.532									Noonan_syndrome				37	75					0	0	0.003755	0	0
TMEM178	130733	broad.mit.edu	37	2	39931256	39931256	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:39931256T>A	uc002rrt.2	+	2	461	c.436T>A	c.(436-438)TTT>ATT	p.F146I	TMEM178_uc010fam.1_Missense_Mutation_p.F146I	NM_152390	NP_689603	Q8NBL3	TM178_HUMAN	transmembrane protein 178 precursor	146	Extracellular (Potential).					integral to membrane					0		all_hematologic(82;0.248)				CAAGTACCACTTTTCTCAGCC	0.443													12	39					0	0	0.003163	0	0
FOXN2	3344	broad.mit.edu	37	2	48573700	48573700	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:48573700C>T	uc002rwh.1	+	3	662	c.347C>T	c.(346-348)TCC>TTC	p.S116F		NM_002158	NP_002149	P32314	FOXN2_HUMAN	T-cell leukemia virus enhancer factor	116	Fork-head.				embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			CCCCCATACTCCTTTAGTCTT	0.403													27	91					0	0	0.007291	0	0
NRXN1	9378	broad.mit.edu	37	2	50318477	50318477	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:50318477G>A	uc010fbp.2	-	3	1404	c.597C>T	c.(595-597)ATC>ATT	p.I199I	NRXN1_uc002rxb.3_Silent_p.I906I|NRXN1_uc010fbq.2_Silent_p.I1274I|NRXN1_uc002rxe.3_Silent_p.I1234I	NM_138735	NP_620072	P58400	NRX1B_HUMAN	neurexin 1 isoform beta precursor	199	Extracellular (Potential).|Laminin G-like.				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GGTAGCGCTCGATCACTGGCC	0.448													60	154					0	0	0.003610	0	0
ERLEC1	27248	broad.mit.edu	37	2	54024892	54024892	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:54024892C>T	uc002rxl.2	+	5	730	c.450C>T	c.(448-450)TAC>TAT	p.Y150Y	ASB3_uc002rxi.3_Intron|ERLEC1_uc002rxm.2_Silent_p.Y150Y|ERLEC1_uc002rxn.2_Silent_p.Y150Y	NM_015701	NP_056516	Q96DZ1	ERLEC_HUMAN	erlectin isoform 1	150	PRKCSH 1.				ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding			ovary(2)	2						ACGAGTACTACCTTGGGAATA	0.289													34	73					0	0	0.007835	0	0
B3GNT2	10678	broad.mit.edu	37	2	62449926	62449926	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:62449926C>T	uc002sbs.2	+	2	809	c.571C>T	c.(571-573)CAC>TAC	p.H191Y		NM_006577	NP_006568	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal	191	Lumenal (Potential).					Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			ovary(1)	1	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			AGAGGACAACCACCCCGACCT	0.512													22	34					0	0	0.002299	0	0
OTX1	5013	broad.mit.edu	37	2	63282651	63282651	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:63282651C>T	uc002scd.2	+	5	513	c.265C>T	c.(265-267)CGC>TGC	p.R89C	OTX1_uc010ypt.1_Missense_Mutation_p.R23C	NM_014562	NP_055377	P32242	OTX1_HUMAN	orthodenticle homeobox 1	89	Homeobox.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			pancreas(2)	2	Lung NSC(7;0.121)|all_lung(7;0.211)					GTTCAAGAACCGCCGCGCCAA	0.667													8	15					0	0	0.006214	0	0
WDR92	116143	broad.mit.edu	37	2	68368839	68368839	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:68368839C>T	uc002see.1	-	4	585	c.504G>A	c.(502-504)TGG>TGA	p.W168*	WDR92_uc002sed.1_RNA|WDR92_uc002sef.1_Nonsense_Mutation_p.W168*|WDR92_uc002seg.1_Nonsense_Mutation_p.W67*	NM_138458	NP_612467	Q96MX6	WDR92_HUMAN	monad	168	WD 3.				apoptosis|histone lysine methylation		methylated histone residue binding				0						ATGCCACAGTCCAACAGTCTC	0.398													29	106					0	0	0.008361	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69049501	69049501	+	Silent	SNP	C	T	T	rs146486959	byFrequency	TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:69049501C>T	uc002seu.2	+	10	1591	c.1227C>T	c.(1225-1227)ACC>ACT	p.T409T	ARHGAP25_uc010fdg.2_Silent_p.T410T|ARHGAP25_uc010yql.1_Silent_p.T370T|ARHGAP25_uc002sew.2_Silent_p.T402T|ARHGAP25_uc002sex.2_Silent_p.T403T|ARHGAP25_uc002sey.2_Silent_p.T136T	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Rho GTPase activating protein 25 isoform a	409					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|breast(2)	4						CCAGCCCCACCGGACAGCAGC	0.512													29	82					0	0	0.007291	0	0
AAK1	22848	broad.mit.edu	37	2	69759215	69759215	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:69759215G>A	uc002sfp.2	-	6	1119	c.614C>T	c.(613-615)CCA>CTA	p.P205L	AAK1_uc010fdk.2_Missense_Mutation_p.P205L|AAK1_uc010yqm.1_Missense_Mutation_p.P205L	NM_014911	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	205	Protein kinase.					coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity				0						CTCAGTTTGTGGATTCTGGAA	0.428													22	85					0	0	0.001882	0	0
ASPRV1	151516	broad.mit.edu	37	2	70188388	70188388	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:70188388C>T	uc002sfz.3	-	1	1010	c.433G>A	c.(433-435)GAG>AAG	p.E145K		NM_152792	NP_690005	Q53RT3	APRV1_HUMAN	aspartic peptidase, retroviral-like 1 precursor	145	Extracellular (Potential).				protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity			ovary(1)	1						CCCAGGGCCTCTCCTCTGAGG	0.562													10	22					0	0	0.006214	0	0
ADD2	119	broad.mit.edu	37	2	70904014	70904014	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:70904014G>A	uc002sgz.2	-	13	1972	c.1507C>T	c.(1507-1509)CGA>TGA	p.R503*	ADD2_uc010fds.1_RNA|ADD2_uc002sgy.2_Nonsense_Mutation_p.R503*|ADD2_uc002sha.2_Nonsense_Mutation_p.R197*|ADD2_uc002sgx.2_Nonsense_Mutation_p.R503*|ADD2_uc010fdt.1_Nonsense_Mutation_p.R503*|ADD2_uc002shc.1_Nonsense_Mutation_p.R503*|ADD2_uc002shd.1_Nonsense_Mutation_p.R197*|ADD2_uc010fdu.1_Nonsense_Mutation_p.R519*	NM_001617	NP_001608	P35612	ADDB_HUMAN	adducin 2 isoform a	503					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			ovary(2)|pancreas(1)	3						TTTTGTTCTCGAATCTGTGTG	0.592													15	41					0	0	0.003163	0	0
DYSF	8291	broad.mit.edu	37	2	71791313	71791313	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:71791313T>A	uc002sie.2	+	24	2857	c.2481T>A	c.(2479-2481)AAT>AAA	p.N827K	DYSF_uc010feg.2_Missense_Mutation_p.N858K|DYSF_uc010feh.2_Missense_Mutation_p.N813K|DYSF_uc002sig.3_Missense_Mutation_p.N813K|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.N827K|DYSF_uc010fef.2_Missense_Mutation_p.N844K|DYSF_uc010fei.2_Missense_Mutation_p.N844K|DYSF_uc010fek.2_Missense_Mutation_p.N845K|DYSF_uc010fej.2_Missense_Mutation_p.N814K|DYSF_uc010fel.2_Missense_Mutation_p.N814K|DYSF_uc010feo.2_Missense_Mutation_p.N859K|DYSF_uc010fem.2_Missense_Mutation_p.N828K|DYSF_uc010fen.2_Missense_Mutation_p.N845K|DYSF_uc002sif.2_Missense_Mutation_p.N828K	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	827	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						GTGGCAAGAATTGTGGGAAGC	0.507													24	71					0	0	0.004656	0	0
DYSF	8291	broad.mit.edu	37	2	71825746	71825746	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:71825746G>A	uc002sie.2	+	33	3949	c.3573G>A	c.(3571-3573)GTG>GTA	p.V1191V	DYSF_uc010feg.2_Silent_p.V1222V|DYSF_uc010feh.2_Silent_p.V1177V|DYSF_uc002sig.3_Silent_p.V1177V|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Silent_p.V1191V|DYSF_uc010fef.2_Silent_p.V1208V|DYSF_uc010fei.2_Silent_p.V1208V|DYSF_uc010fek.2_Silent_p.V1209V|DYSF_uc010fej.2_Silent_p.V1178V|DYSF_uc010fel.2_Silent_p.V1178V|DYSF_uc010feo.2_Silent_p.V1223V|DYSF_uc010fem.2_Silent_p.V1192V|DYSF_uc010fen.2_Silent_p.V1209V|DYSF_uc002sif.2_Silent_p.V1192V|DYSF_uc010yqy.1_Silent_p.V72V	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	1191	Cytoplasmic (Potential).|C2 4.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						CGGTGGTGGTGAAGAACACCC	0.607													14	19					0	0	0.004990	0	0
ALMS1	7840	broad.mit.edu	37	2	73651767	73651767	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:73651767C>T	uc002sje.1	+	6	1088	c.977C>T	c.(976-978)TCG>TTG	p.S326L	ALMS1_uc002sjf.1_Missense_Mutation_p.S283L	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	325					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						GAGACTATTTCGTCTGTTGAT	0.418													6	28					0	0	0.001168	0	0
TET3	200424	broad.mit.edu	37	2	74274350	74274350	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:74274350G>A	uc002skb.3	+	1	901	c.901G>A	c.(901-903)GCC>ACC	p.A301T	TET3_uc010fez.1_Missense_Mutation_p.A301T	NM_144993	NP_659430	O43151	TET3_HUMAN	tet oncogene family member 3	301							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						GTTCCCTGAAGCCTGGGGCAC	0.612													18	31					0	0	0.006122	0	0
DCTN1	1639	broad.mit.edu	37	2	74593972	74593973	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:74593972_74593973GG>AA	uc002skx.2	-	21	2714_2715	c.2403_2404CC>TT	c.(2401-2406)ATCCGA>ATTTGA	p.R802*	DCTN1_uc002skt.1_5'Flank|DCTN1_uc002skv.2_Nonsense_Mutation_p.R668*|DCTN1_uc002sku.2_Nonsense_Mutation_p.R668*|DCTN1_uc002skw.1_Nonsense_Mutation_p.R778*|DCTN1_uc010ffd.2_Nonsense_Mutation_p.R782*|DCTN1_uc002sky.2_Nonsense_Mutation_p.R765*	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	dynactin 1 isoform 1	802					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			ovary(3)|skin(2)	5						ATTCGCCTTCGGATCTTCTTGC	0.55													15	47					0	0	0.004672	0	0
PCGF1	84759	broad.mit.edu	37	2	74733311	74733312	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:74733311_74733312CC>TT	uc002slz.2	-	4	446_447	c.420_421GG>AA	c.(418-423)GGGGAA>GGAAAA	p.E141K	LBX2_uc002slw.2_5'Flank|PCGF1_uc002sly.2_Missense_Mutation_p.E58K	NM_032673	NP_116062	Q9BSM1	PCGF1_HUMAN	polycomb group ring finger 1	141					histone H2A monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	protein C-terminus binding|zinc ion binding			ovary(1)	1						GACATACCTTCCCCAGTGGGCT	0.515													23	76					0	0	0.004672	0	0
C2orf65	130951	broad.mit.edu	37	2	74834279	74834279	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:74834279G>A	uc002smy.2	-	4	615	c.498C>T	c.(496-498)GAC>GAT	p.D166D	C2orf65_uc010ysa.1_Silent_p.D166D|C2orf65_uc002smz.2_Silent_p.D166D	NM_138804	NP_620159	Q8TC57	CB065_HUMAN	hypothetical protein LOC130951	166					chromatin assembly|female gamete generation|RNA processing|spermatogenesis	integral to membrane				ovary(1)|pancreas(1)	2						CTCTGGCTAGGTCTGTATCTT	0.458													36	66					0	0	0.006230	0	0
Unknown	0	broad.mit.edu	37	2	90007990	90007990	+	RNA	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:90007990G>A	uc010fhm.2	+	8		c.1163G>A								Parts of antibodies, mostly variable regions.																		CAGAAACCAGGGAAAGTTCCT	0.522													15	31					0	0	0.001523	0	0
TEKT4	150483	broad.mit.edu	37	2	95540644	95540644	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:95540644G>A	uc002stw.1	+	4	930	c.837G>A	c.(835-837)GAG>GAA	p.E279E	uc002stv.1_Intron|TEKT4_uc010fhr.1_RNA	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN	tektin 4	279					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(1)|breast(1)|skin(1)	3						ACACCTCCGAGGACCTGCGGC	0.677													3	14					0	0	0.000248	0	0
Unknown	0	broad.mit.edu	37	2	96557431	96557431	+	RNA	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:96557431C>T	uc002sva.1	-	27		c.1343G>A			uc002suz.1_5'UTR|uc002svb.1_5'UTR					Homo sapiens cDNA FLJ41632 fis, clone FCBBF1000297, highly  similar to Human protein immuno-reactive with anti-PTH polyclonal antibodies mRNA.																		GTTTTTTCTCCATGCTTTTTT	0.284													3	4					0	0	0.004672	0	0
TMEM127	55654	broad.mit.edu	37	2	96919742	96919742	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:96919742G>A	uc002svq.2	-	4	778	c.521C>T	c.(520-522)GCC>GTC	p.A174V	TMEM127_uc002svr.2_Missense_Mutation_p.A174V	NM_017849	NP_060319	O75204	TM127_HUMAN	transmembrane protein 127	174	Helical; (Potential).				negative regulation of cell proliferation|negative regulation of TOR signaling cascade	cytoplasm|integral to membrane|plasma membrane					0						GAAGCTAACGGCGAAGGTGAC	0.577									Pheochromocytoma_(Adrenal)_Familial				16	34					0	0	0.006122	0	0
ARID5A	10865	broad.mit.edu	37	2	97217625	97217625	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:97217625C>T	uc002swe.2	+	7	1460	c.1360C>T	c.(1360-1362)CAC>TAC	p.H454Y	ARID5A_uc010yuq.1_Missense_Mutation_p.H402Y|ARID5A_uc002swf.2_Missense_Mutation_p.H290Y|ARID5A_uc002swg.2_Missense_Mutation_p.H402Y	NM_212481	NP_997646	Q03989	ARI5A_HUMAN	AT rich interactive domain 5A	454					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding				0						GGGTGCTGCCCACAGTGGGAA	0.667													4	11					0	0	0.000248	0	0
FER1L5	90342	broad.mit.edu	37	2	97369995	97369995	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:97369995A>T	uc010fia.2	+	51	5953	c.5953A>T	c.(5953-5955)AAC>TAC	p.N1985Y	FER1L5_uc002sws.3_Missense_Mutation_p.N694Y|FER1L5_uc002swt.3_Missense_Mutation_p.N694Y|FER1L5_uc010yus.1_Missense_Mutation_p.N693Y	NM_001113382	NP_001106853	A0AVI2	FR1L5_HUMAN	fer-1-like 5 isoform 2	1985						integral to membrane				ovary(1)	1						ACCAGTTCAAAACTTCTGCTA	0.453													13	39					0	0	0.001368	0	0
ANKRD36B	57730	broad.mit.edu	37	2	98175306	98175306	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:98175306G>A	uc010yvc.1	-	10	1203	c.923C>T	c.(922-924)TCA>TTA	p.S308L	ANKRD36B_uc010yve.1_RNA|ANKRD36B_uc010fif.2_RNA	NM_025190	NP_079466	Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B	308											0						GGCTATATTTGAAACAGAATC	0.333													12	40					0	0	0.004007	0	0
VWA3B	200403	broad.mit.edu	37	2	98804492	98804492	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:98804492C>T	uc002syo.2	+	10	1630	c.1366C>T	c.(1366-1368)CCC>TCC	p.P456S	VWA3B_uc010yvh.1_Missense_Mutation_p.P306S|VWA3B_uc002syj.2_RNA|VWA3B_uc002syk.1_Intron|VWA3B_uc002syl.1_Intron|VWA3B_uc002sym.2_Missense_Mutation_p.P456S|VWA3B_uc002syn.1_Intron|VWA3B_uc010yvi.1_Missense_Mutation_p.P113S	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	456										ovary(3)|large_intestine(2)|skin(1)	6						TGTCCATGCTCCCTGGAAGGA	0.502													13	26					0	0	0.001855	0	0
C2orf55	343990	broad.mit.edu	37	2	99439606	99439606	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:99439606G>A	uc002szf.1	-	7	1424	c.1130C>T	c.(1129-1131)CCC>CTC	p.P377L		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	hypothetical protein LOC343990	377	Pro-rich.										0						CGGGCCTGCGGGGGGCGCCTC	0.756													7	8					0	0	0.008291	0	0
REV1	51455	broad.mit.edu	37	2	100050846	100050846	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:100050846G>A	uc002tad.2	-	8	1598	c.1386C>T	c.(1384-1386)AAC>AAT	p.N462N	REV1_uc002tac.2_Silent_p.N462N	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN	REV1-like isoform 1	462	UmuC.				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			ovary(2)	2						CCAGCTGGGGGTTAGCGCCAG	0.453								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					26	50					0	0	0.005443	0	0
IL1RL2	8808	broad.mit.edu	37	2	102849574	102849574	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:102849574C>T	uc002tbs.2	+	10	1413	c.1287C>T	c.(1285-1287)TTC>TTT	p.F429F	IL1RL2_uc002tbt.2_Silent_p.F311F	NM_003854	NP_003845	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2 precursor	429	TIR.|Cytoplasmic (Potential).				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			ovary(2)	2						GAGATGAATTCCCTGGACAAG	0.468													12	30					0	0	0.002450	0	0
IL1RL1	9173	broad.mit.edu	37	2	102968169	102968169	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:102968169G>A	uc002tbu.1	+	11	1730	c.1459G>A	c.(1459-1461)GAG>AAG	p.E487K	IL18R1_uc002tbw.3_Intron	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1 isoform 1	487	TIR.|Cytoplasmic (Potential).				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			skin(2)|ovary(1)|central_nervous_system(1)	4						GGCTCTGAGCGAGCTGGACAT	0.537													12	31					0	0	0.000978	0	0
IL18R1	8809	broad.mit.edu	37	2	103010932	103010932	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:103010932G>A	uc002tbw.3	+	10	1265	c.1115G>A	c.(1114-1116)GGA>GAA	p.G372E	IL18R1_uc010ywc.1_Missense_Mutation_p.G371E|IL18R1_uc010ywd.1_Missense_Mutation_p.G216E|IL18R1_uc010fiy.2_Missense_Mutation_p.G372E	NM_003855	NP_003846	Q13478	IL18R_HUMAN	interleukin 18 receptor 1 precursor	372	Cytoplasmic (Potential).				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			ovary(2)|pancreas(1)	3						CTCCTAGATGGAAAAACATAT	0.358													16	27					0	0	0.007413	0	0
SLC9A4	389015	broad.mit.edu	37	2	103148806	103148806	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:103148806C>T	uc002tbz.3	+	12	2513	c.2056C>T	c.(2056-2058)CCA>TCA	p.P686S		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	solute carrier family 9 (sodium/hydrogen	686	Cytoplasmic (Potential).				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			skin(2)|central_nervous_system(1)	3						CAGCAGTGATCCAGGATCCCC	0.453													22	56					0	0	0.002299	0	0
SLC9A4	389015	broad.mit.edu	37	2	103149106	103149106	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:103149106G>A	uc002tbz.3	+	12	2813	c.2356G>A	c.(2356-2358)GAC>AAC	p.D786N		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	solute carrier family 9 (sodium/hydrogen	786	Cytoplasmic (Potential).				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			skin(2)|central_nervous_system(1)	3						ACACGGCAGGGACCATCACAG	0.502													5	17					0	0	0.001168	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105890114	105890114	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:105890114C>T	uc002tcq.2	-	9	1783	c.1699G>A	c.(1699-1701)GAT>AAT	p.D567N	TGFBRAP1_uc010fjc.2_Missense_Mutation_p.D336N|TGFBRAP1_uc002tcr.3_Missense_Mutation_p.D567N	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor	567					regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|skin(1)	2						TGCTGTTCATCCAAAGGTCTC	0.408													12	43					0	0	0.001855	0	0
RGPD3	653489	broad.mit.edu	37	2	107042457	107042457	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:107042457G>A	uc010ywi.1	-	19	2750	c.2693C>T	c.(2692-2694)CCC>CTC	p.P898L		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	898					intracellular transport		binding			ovary(1)	1						TACCTTTGTGGGAGTAACATT	0.313													16	98					0	0	0.001523	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107450519	107450519	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:107450519T>G	uc002tdq.2	-	3	1146	c.1027A>C	c.(1027-1029)ATC>CTC	p.I343L	ST6GAL2_uc002tdr.2_Missense_Mutation_p.I343L|ST6GAL2_uc002tds.3_Missense_Mutation_p.I343L	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide	343	Lumenal (Potential).				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			pancreas(6)|ovary(4)|skin(1)	11						GAATTAATGATGCGTATGGTG	0.398													36	83					0	0	0.006999	0	0
RGPD4	285190	broad.mit.edu	37	2	108475875	108475875	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:108475875T>A	uc010ywk.1	+	11	1581	c.1499T>A	c.(1498-1500)TTA>TAA	p.L500*	RGPD4_uc002tdu.2_5'UTR|RGPD4_uc010ywl.1_RNA	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	500					intracellular transport		binding			skin(2)	2						CACTTACAATTAAAGGAGAAA	0.338													28	118					0	0	0.008740	0	0
RGPD4	285190	broad.mit.edu	37	2	108488207	108488207	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:108488207G>A	uc010ywk.1	+	20	3829	c.3747G>A	c.(3745-3747)TGG>TGA	p.W1249*	RGPD4_uc002tdu.2_Nonsense_Mutation_p.W436*|RGPD4_uc010ywl.1_Intron	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1249					intracellular transport		binding			skin(2)	2						CATTAGAATGGGATAACTGTG	0.443													85	199					0	0	0.003610	0	0
SULT1C4	27233	broad.mit.edu	37	2	108999957	108999957	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:108999957C>T	uc002tea.1	+	5	979	c.606C>T	c.(604-606)GAC>GAT	p.D202D	SULT1C4_uc010ywr.1_RNA|SULT1C4_uc002teb.1_Silent_p.D127D	NM_006588	NP_006579	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member	202	PAPS.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity				0						TCTATGAGGACATGAAGAAGG	0.478													7	32					0	0	0.004482	0	0
IL1A	3552	broad.mit.edu	37	2	113535625	113535625	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:113535625C>T	uc002tig.2	-	6	1514	c.554G>A	c.(553-555)AGA>AAA	p.R185K		NM_000575	NP_000566	P01583	IL1A_HUMAN	interleukin 1, alpha proprotein	185					anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion	cytosol|extracellular space	copper ion binding|cytokine activity|interleukin-1 receptor binding			lung(1)	1						TTTTGAGATTCTTAGAATCAC	0.373													18	50					0	0	0.007413	0	0
PSD4	23550	broad.mit.edu	37	2	113940066	113940066	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:113940066C>T	uc002tjc.2	+	2	216	c.33C>T	c.(31-33)CCC>CCT	p.P11P	PSD4_uc002tjd.2_5'UTR|PSD4_uc002tje.2_Silent_p.P10P|PSD4_uc002tjf.2_5'Flank	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	11					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			ovary(2)	2						CTGACCACCCCCAGCCCATGG	0.592													6	32					0	0	0.001984	0	0
DPP10	57628	broad.mit.edu	37	2	116572408	116572408	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:116572408C>T	uc002tla.1	+	20	2197	c.1740C>T	c.(1738-1740)TTC>TTT	p.F580F	DPP10_uc002tlb.1_Silent_p.F530F|DPP10_uc002tlc.1_Silent_p.F576F|DPP10_uc002tle.2_Silent_p.F584F|DPP10_uc002tlf.1_Silent_p.F573F	NM_020868	NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl peptidase 10 isoform long	580	Extracellular (Potential).				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						CAGATAAGTTCCATATTGACT	0.413													11	50					0	0	0.000978	0	0
STEAP3	55240	broad.mit.edu	37	2	120003204	120003204	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:120003204C>T	uc002tlp.2	+	3	289	c.132C>T	c.(130-132)GCC>GCT	p.A44A	STEAP3_uc002tlq.2_Silent_p.A54A|STEAP3_uc002tlr.2_Silent_p.A44A|STEAP3_uc010fle.2_Silent_p.A44A	NM_018234	NP_060704	Q658P3	STEA3_HUMAN	dudulin 2 isoform b	44	Cytoplasmic (Potential).				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			central_nervous_system(2)|skin(1)	3						GCTCCCTGGCCACACGCCTGG	0.642													6	14					0	0	0.001984	0	0
PCDP1	200373	broad.mit.edu	37	2	120404598	120404598	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:120404598G>A	uc002tmb.2	+	23	2524	c.1432G>A	c.(1432-1434)GAA>AAA	p.E478K		NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN	primary ciliary dyskinesia protein 1	764						cilium	calmodulin binding				0	Colorectal(110;0.196)					TGCCTTACCAGAAGAGGACAG	0.408													34	78					0	0	0.004289	0	0
RALB	5899	broad.mit.edu	37	2	121047196	121047197	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:121047196_121047197CC>TT	uc002tmk.2	+	4	554_555	c.364_365CC>TT	c.(364-366)CCA>TTA	p.P122L	RALB_uc010yys.1_Missense_Mutation_p.P144L|RALB_uc002tml.2_Missense_Mutation_p.P143L|RALB_uc002tmm.2_RNA|RALB_uc010yyt.1_RNA	NM_002881	NP_002872	P11234	RALB_HUMAN	v-ral simian leukemia viral oncogene homolog B	122					apoptosis|cell cycle|cytokinesis|nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of exocyst assembly|regulation of exocyst localization	cytosol|midbody|plasma membrane	GTP binding|GTPase activity|protein binding			lung(3)	3		Prostate(154;0.122)				AGATAAAATTCCACTGCTCGTC	0.5													38	91					0	0	0.004672	0	0
GLI2	2736	broad.mit.edu	37	2	121747549	121747549	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:121747549G>A	uc010flp.2	+	13	4089	c.4059G>A	c.(4057-4059)GAG>GAA	p.E1353E	GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Silent_p.E1025E|GLI2_uc002tmu.3_Silent_p.E1008E	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	1353					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13	Renal(3;0.0496)	Prostate(154;0.0623)				GCTTCATGGAGCCCCAAACAG	0.692													4	12					0	0	0.000248	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125192116	125192116	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:125192116G>A	uc002tno.2	+	5	949	c.585G>A	c.(583-585)CAG>CAA	p.Q195Q	CNTNAP5_uc010flu.2_Silent_p.Q195Q	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	195	Laminin G-like 1.|Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		GGTTCAATCAGAAGTTGATGA	0.458													22	56					0	0	0.003954	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125521320	125521320	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:125521320A>C	uc002tno.2	+	15	2667	c.2303A>C	c.(2302-2304)GAC>GCC	p.D768A	CNTNAP5_uc010flu.2_Missense_Mutation_p.D769A	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	768	Extracellular (Potential).|Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		ACTGATACCGACAGATCAAAC	0.408													5	16					0	0	0.000602	0	0
THSD7B	80731	broad.mit.edu	37	2	137814117	137814117	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:137814117G>A	uc002tva.1	+	2	174	c.174G>A	c.(172-174)AAG>AAA	p.K58K	THSD7B_uc010zbj.1_RNA|THSD7B_uc002tvb.2_5'UTR	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)		GGCCTCCAAAGGAAAGAAGTT	0.542													8	31					0	0	0.003080	0	0
THSD7B	80731	broad.mit.edu	37	2	137814593	137814593	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:137814593G>A	uc002tva.1	+	2	650	c.650G>A	c.(649-651)TGG>TAG	p.W217*	THSD7B_uc010zbj.1_RNA|THSD7B_uc002tvb.2_Nonsense_Mutation_p.W107*	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)		GTTGGACCATGGAGTAAATGC	0.413													41	122					0	0	0.008740	0	0
THSD7B	80731	broad.mit.edu	37	2	137990490	137990490	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:137990490G>T	uc002tva.1	+	8	1844	c.1844G>T	c.(1843-1845)AGT>ATT	p.S615I	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Missense_Mutation_p.S505I	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)		TGTCCCCCTAGTCAGGCTCTC	0.453													14	24					1.5739e-10	2.05263e-10	0.004007	1	0
LRP1B	53353	broad.mit.edu	37	2	141032134	141032134	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:141032134G>A	uc002tvj.1	-	85	13973	c.13001C>T	c.(13000-13002)TCA>TTA	p.S4334L		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	4334	Extracellular (Potential).|EGF-like 13.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AATGGTACATGATTCAGAATT	0.403										TSP Lung(27;0.18)			12	24					0	0	0.003163	0	0
LRP1B	53353	broad.mit.edu	37	2	141232749	141232749	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:141232749G>A	uc002tvj.1	-	60	10555	c.9583C>T	c.(9583-9585)CAC>TAC	p.H3195Y		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3195	Extracellular (Potential).|LDL-receptor class B 31.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AATTCAATGTGATTTTCATCG	0.338										TSP Lung(27;0.18)			22	51					0	0	0.003954	0	0
LRP1B	53353	broad.mit.edu	37	2	141259324	141259324	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:141259324T>A	uc002tvj.1	-	55	9754	c.8782A>T	c.(8782-8784)AAT>TAT	p.N2928Y		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2928	Extracellular (Potential).|EGF-like 6.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AAACATTCATTTATATGGCAG	0.408										TSP Lung(27;0.18)			12	49					0	0	0.001368	0	0
LRP1B	53353	broad.mit.edu	37	2	141260627	141260627	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:141260627C>T	uc002tvj.1	-	54	9539	c.8567G>A	c.(8566-8568)CGG>CAG	p.R2856Q		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2856	Extracellular (Potential).|LDL-receptor class A 19.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TAGAAGACACCGCCCATCAGC	0.393										TSP Lung(27;0.18)			18	49					0	0	0.007413	0	0
LRP1B	53353	broad.mit.edu	37	2	141528474	141528474	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:141528474G>A	uc002tvj.1	-	34	6574	c.5602C>T	c.(5602-5604)CAA>TAA	p.Q1868*		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1868	Extracellular (Potential).|EGF-like 4.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CGGTTCTTTTGGAGATAATAT	0.383										TSP Lung(27;0.18)			29	78					0	0	0.002096	0	0
GTDC1	79712	broad.mit.edu	37	2	144764854	144764854	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:144764854G>A	uc002tvp.2	-	7	1049	c.770C>T	c.(769-771)TCT>TTT	p.S257F	GTDC1_uc002tvo.2_Missense_Mutation_p.S257F|GTDC1_uc002tvq.2_Intron|GTDC1_uc002tvr.2_Missense_Mutation_p.S257F|GTDC1_uc010fnn.2_Missense_Mutation_p.S257F|GTDC1_uc002tvs.2_Missense_Mutation_p.S225F|GTDC1_uc010fno.2_Missense_Mutation_p.S128F|GTDC1_uc002tvt.1_Missense_Mutation_p.S257F	NM_001006636	NP_001006637	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	257					biosynthetic process		transferase activity, transferring glycosyl groups			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.0914)		ACCATGATGAGAGCTTGAATT	0.408													25	36					0	0	0.003330	0	0
KIF5C	3800	broad.mit.edu	37	2	149806414	149806414	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:149806414T>C	uc010zbu.1	+	9	1144	c.776T>C	c.(775-777)TTG>TCG	p.L259S	KIF5C_uc002tws.1_RNA	NM_004522	NP_004513	O60282	KIF5C_HUMAN	kinesin family member 5C	259	Kinesin-motor.|Microtubule-binding.				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.108)		AATAAGTCTTTGTCTGCTCTT	0.453													7	19					0	0	0.001984	0	0
KIF5C	3800	broad.mit.edu	37	2	149837950	149837950	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:149837950G>A	uc010zbu.1	+	14	1812	c.1444G>A	c.(1444-1446)GAT>AAT	p.D482N	KIF5C_uc002tws.1_RNA|KIF5C_uc002twt.2_Missense_Mutation_p.D34N	NM_004522	NP_004513	O60282	KIF5C_HUMAN	kinesin family member 5C	482					microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.108)		GGCAGCCAAGGATGAGGTGAA	0.498													5	11					0	0	0.000602	0	0
NEB	4703	broad.mit.edu	37	2	152376255	152376255	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:152376255C>T	uc010fnx.2	-	126	17595	c.17404G>A	c.(17404-17406)GAA>AAA	p.E5802K	NEB_uc002txr.2_Missense_Mutation_p.E2225K|NEB_uc002txt.3_Missense_Mutation_p.E307K	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	5802					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTGCCCTTTTCTTTATCGAAA	0.343													22	83					0	0	0.003330	0	0
NEB	4703	broad.mit.edu	37	2	152500996	152500996	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:152500996C>T	uc010fnx.2	-	56	7821	c.7630G>A	c.(7630-7632)GAA>AAA	p.E2544K		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	2544	Nebulin 68.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTGGCAATTTCCCGGGAGGCT	0.358													43	52					0	0	0.003214	0	0
FMNL2	114793	broad.mit.edu	37	2	153417457	153417457	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:153417457G>A	uc002tye.2	+	6	871	c.504G>A	c.(502-504)TGG>TGA	p.W168*		NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	formin-like 2	168	GBD/FH3.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|ovary(1)	3						CAAAGCCCTGGAGTAGGTCCA	0.498													4	13					0	0	0.000248	0	0
ERMN	57471	broad.mit.edu	37	2	158178156	158178156	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:158178156C>T	uc002tzh.2	-	3	744	c.482G>A	c.(481-483)GGA>GAA	p.G161E	ERMN_uc010zcj.1_Missense_Mutation_p.G55E|ERMN_uc010zck.1_Missense_Mutation_p.G141E|ERMN_uc002tzi.2_Missense_Mutation_p.G174E	NM_020711	NP_065762	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein isoform b	161						cytoplasm|cytoskeleton				ovary(1)|skin(1)	2						TTTTCGAAATCCCAGCCATTC	0.388													38	100					0	0	0.006230	0	0
DAPL1	92196	broad.mit.edu	37	2	159672313	159672313	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:159672313C>T	uc002uaf.2	+	4	360	c.304C>T	c.(304-306)CAG>TAG	p.Q102*		NM_001017920	NP_001017920	A0PJW8	DAPL1_HUMAN	death associated protein-like 1	102					apoptosis|cell differentiation						0						CTACATTATTCAGCAGCCTCG	0.443													17	34					0	0	0.008871	0	0
KCNH7	90134	broad.mit.edu	37	2	163236468	163236468	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:163236468G>A	uc002uch.1	-	14	3238	c.3026C>T	c.(3025-3027)CCA>CTA	p.P1009L		NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H,	1009	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			ovary(3)|skin(2)	5					Ibutilide(DB00308)	AAGTGCAGATGGACTGGAGTC	0.498													39	92					0	0	0.007835	0	0
KCNH7	90134	broad.mit.edu	37	2	163250982	163250982	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:163250982C>T	uc002uch.1	-	12	2839	c.2627G>A	c.(2626-2628)CGA>CAA	p.R876Q		NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H,	876	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			ovary(3)|skin(2)	5					Ibutilide(DB00308)	GGATTGTGATCGTAGGAGATC	0.323													15	48					0	0	0.004007	0	0
SCN2A	6326	broad.mit.edu	37	2	166229797	166229798	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:166229797_166229798CC>TT	uc002udc.2	+	21	4202_4203	c.3912_3913CC>TT	c.(3910-3915)TCCCTC>TCTTTC	p.L1305F	SCN2A_uc002udd.2_Missense_Mutation_p.L1305F|SCN2A_uc002ude.2_Missense_Mutation_p.L1305F	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	1305	III.|Helical; Voltage-sensor; Name=S4 of repeat III; (Potential).				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)	CCATCAAATCCCTCAGAACACT	0.406													26	73					0	0	0.004672	0	0
SCN1A	6323	broad.mit.edu	37	2	166848493	166848493	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:166848493G>A	uc010zcz.1	-	26	5277	c.5259C>T	c.(5257-5259)TTC>TTT	p.F1753F		NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	1764	IV.|Helical; Name=S6 of repeat IV; (By similarity).					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TGACAAAAAAGAAAATTCCAA	0.453													20	81					0	0	0.002299	0	0
SCN9A	6335	broad.mit.edu	37	2	167056155	167056155	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:167056155T>C	uc010fpl.2	-	27	5302	c.4961A>G	c.(4960-4962)AAC>AGC	p.N1654S	uc002udp.2_RNA	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	1665	Helical; Name=S5 of repeat IV; (Potential).|IV.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)|skin(2)	13					Lamotrigine(DB00555)|Lidocaine(DB00281)	ATAGGCAAAGTTGGACATTCC	0.423													45	81					0	0	0.003214	0	0
SCN7A	6332	broad.mit.edu	37	2	167262858	167262858	+	Silent	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:167262858A>T	uc002udu.1	-	25	4408	c.4281T>A	c.(4279-4281)CTT>CTA	p.L1427L		NM_002976	NP_002967	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha	1427					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			large_intestine(1)	1						CAACTTGAAAAAGACAGAGCA	0.363													71	142					0	0	0.003610	0	0
SCN7A	6332	broad.mit.edu	37	2	167273338	167273338	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:167273338G>A	uc002udu.1	-	20	3420	c.3293C>T	c.(3292-3294)TCA>TTA	p.S1098L	SCN7A_uc010fpm.1_RNA	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha	1098					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			large_intestine(1)	1						GACTTCAGATGAAGGAAACCT	0.388													14	29					0	0	0.002450	0	0
XIRP2	129446	broad.mit.edu	37	2	168104177	168104177	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:168104177A>T	uc002udx.2	+	8	6293	c.6275A>T	c.(6274-6276)AAT>ATT	p.N2092I	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.N1917I|XIRP2_uc010fpq.2_Missense_Mutation_p.N1870I|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	1917					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						GTTAAGAATAATCTAACAACT	0.403													12	21					0	0	0.000978	0	0
XIRP2	129446	broad.mit.edu	37	2	168104646	168104646	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:168104646G>A	uc002udx.2	+	8	6762	c.6744G>A	c.(6742-6744)TTG>TTA	p.L2248L	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.L2073L|XIRP2_uc010fpq.2_Silent_p.L2026L|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	2073					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						ATGTTCACTTGAAAAGCCAGG	0.368													10	31					0	0	0.008291	0	0
SPC25	57405	broad.mit.edu	37	2	169728044	169728044	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:169728044A>G	uc002uel.2	-	7	703	c.572T>C	c.(571-573)CTT>CCT	p.L191P		NM_020675	NP_065726	Q9HBM1	SPC25_HUMAN	spindle pole body component 25	191	Interaction with the C-terminus of SPBC24.				cell division|chromosome segregation|mitotic prometaphase|mitotic spindle organization	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			central_nervous_system(1)	1						TAGGCCCTCAAGATGAGGGGC	0.348													36	74					0	0	0.005524	0	0
ABCB11	8647	broad.mit.edu	37	2	169828372	169828372	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:169828372G>A	uc002ueo.1	-	14	1749	c.1623C>T	c.(1621-1623)ATC>ATT	p.I541I	ABCB11_uc010zda.1_5'UTR|ABCB11_uc010zdb.1_Silent_p.I17I	NM_003742	NP_003733	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP),	541	Cytoplasmic (Potential).|ABC transporter 1.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			ovary(2)|large_intestine(2)|breast(1)	5					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	GCAGGTCCATGATGAAGTTGT	0.438													19	79					0	0	0.008871	0	0
LRP2	4036	broad.mit.edu	37	2	170038101	170038101	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:170038101G>A	uc002ues.2	-	52	10239	c.10026C>T	c.(10024-10026)CAC>CAT	p.H3342H		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	3342	Extracellular (Potential).|LDL-receptor class B 32.				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)	TGTATGCGCGGTGACCCCAGT	0.488													12	31					0	0	0.001855	0	0
LRP2	4036	broad.mit.edu	37	2	170048483	170048483	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:170048483C>T	uc002ues.2	-	48	9104	c.8891G>A	c.(8890-8892)AGG>AAG	p.R2964K		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	2964	LDL-receptor class A 22.|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)	GGGAATGCACCTCCTGTCCGG	0.473													26	47					0	0	0.004656	0	0
CDCA7	83879	broad.mit.edu	37	2	174230214	174230214	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:174230214C>T	uc002uid.1	+	6	823	c.692C>T	c.(691-693)TCA>TTA	p.S231L	CDCA7_uc002uic.1_Missense_Mutation_p.S310L|CDCA7_uc010zej.1_Missense_Mutation_p.S266L|CDCA7_uc010zek.1_Missense_Mutation_p.S189L	NM_145810	NP_665809	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7 isoform 2	231					regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.116)			CGCTCCAGATCATCCGTGACC	0.438													37	57					0	0	0.002852	0	0
GPR155	151556	broad.mit.edu	37	2	175301022	175301022	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:175301022C>T	uc002uit.2	-	17	2826	c.2435G>A	c.(2434-2436)GGG>GAG	p.G812E	GPR155_uc002uiu.2_Missense_Mutation_p.G812E|GPR155_uc002uiv.2_Missense_Mutation_p.G812E|GPR155_uc010fqs.2_Missense_Mutation_p.G784E	NM_001033045	NP_001028217	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155 isoform 9	812	DEP.				intracellular signal transduction|transmembrane transport	integral to membrane				ovary(1)	1						GATGACTCCCCCTTGTACCAG	0.483													35	89					0	0	0.005524	0	0
HNRNPA3	220988	broad.mit.edu	37	2	178081271	178081271	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:178081271G>A	uc002ulb.1	+	5	700	c.594G>A	c.(592-594)GTG>GTA	p.V198V	HNRNPA3_uc002ulc.1_Silent_p.V198V|HNRNPA3_uc002uld.2_Silent_p.V176V|HNRNPA3_uc002ule.2_5'Flank	NM_194247	NP_919223	P51991	ROA3_HUMAN	heterogeneous nuclear ribonucleoprotein A3	198	RRM 2.					catalytic step 2 spliceosome|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding			ovary(2)	2						ATTGTGAAGTGAAAAAGGCCC	0.343													26	64					0	0	0.001786	0	0
AGPS	8540	broad.mit.edu	37	2	178346790	178346790	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:178346790C>T	uc002ull.2	+	11	1156	c.1109C>T	c.(1108-1110)ACT>ATT	p.T370I	AGPS_uc010zfb.1_Missense_Mutation_p.T280I	NM_003659	NP_003650	O00116	ADAS_HUMAN	alkyldihydroxyacetone phosphate synthase	370	FAD-binding PCMH-type.				ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity			ovary(2)|central_nervous_system(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			TTTTCAGGAACTCTTGGTGTA	0.323													9	28					0	0	0.006214	0	0
PDE11A	50940	broad.mit.edu	37	2	178494270	178494270	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:178494270C>T	uc002ulq.2	-	20	2985	c.2667G>A	c.(2665-2667)GTG>GTA	p.V889V	PDE11A_uc010zfd.1_Silent_p.V80V|PDE11A_uc002ulp.2_Silent_p.V445V|PDE11A_uc002ulr.2_Silent_p.V639V|PDE11A_uc002uls.1_Silent_p.V531V|PDE11A_uc002ult.1_Silent_p.V639V|PDE11A_uc002ulu.1_Silent_p.V531V	NM_016953	NP_058649	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A isoform 4	889	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			ovary(3)|large_intestine(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			GCTTCAGTTTCACGTTGACCT	0.433									Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial				39	80					0	0	0.008740	0	0
PDE11A	50940	broad.mit.edu	37	2	178769883	178769883	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:178769883A>G	uc002ulq.2	-	3	1421	c.1103T>C	c.(1102-1104)ATC>ACC	p.I368T	PDE11A_uc002ulr.2_Missense_Mutation_p.I118T|PDE11A_uc002uls.1_Missense_Mutation_p.I10T|PDE11A_uc002ult.1_Missense_Mutation_p.I118T|PDE11A_uc002ulu.1_Missense_Mutation_p.I10T	NM_016953	NP_058649	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A isoform 4	368	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			ovary(3)|large_intestine(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			AGATATGGCGATTCCACAAAA	0.368									Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial				18	44					0	0	0.006122	0	0
RBM45	129831	broad.mit.edu	37	2	178988285	178988285	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:178988285C>T	uc002ulv.2	+	6	982	c.890C>T	c.(889-891)GCT>GTT	p.A297V		NM_152945	NP_694453	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	299					cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			GTAGCATCAGCTATTTATGCA	0.373													27	61					0	0	0.006320	0	0
OSBPL6	114880	broad.mit.edu	37	2	179247813	179247813	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:179247813C>T	uc002ulx.2	+	17	2062	c.1684C>T	c.(1684-1686)CCT>TCT	p.P562S	OSBPL6_uc002uly.2_Missense_Mutation_p.P587S|OSBPL6_uc010zfe.1_Missense_Mutation_p.P531S|OSBPL6_uc002ulz.2_Missense_Mutation_p.P526S|OSBPL6_uc002uma.2_Missense_Mutation_p.P566S	NM_032523	NP_115912	Q9BZF3	OSBL6_HUMAN	oxysterol-binding protein-like protein 6 isoform	562					lipid transport		lipid binding			pancreas(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			CCTGCCAGCTCCTTGTCCTGA	0.507													29	67					0	0	0.001786	0	0
TTN	7273	broad.mit.edu	37	2	179404953	179404953	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:179404953C>T	uc010zfg.1	-	300	90460	c.90236G>A	c.(90235-90237)TGG>TAG	p.W30079*	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Nonsense_Mutation_p.W23774*|TTN_uc010zfi.1_Nonsense_Mutation_p.W23707*|TTN_uc010zfj.1_Nonsense_Mutation_p.W23582*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	31006							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)			ACACTTGGTCCATTCATGTTG	0.458													69	204					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179426563	179426563	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:179426563G>A	uc010zfg.1	-	275	76816	c.76592C>T	c.(76591-76593)TCT>TTT	p.S25531F	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S19226F|TTN_uc010zfi.1_Missense_Mutation_p.S19159F|TTN_uc010zfj.1_Missense_Mutation_p.S19034F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	26458							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)			CCATGTTGTAGAGGTGGTTTC	0.403													12	31					0	0	0.001368	0	0
TTN	7273	broad.mit.edu	37	2	179430748	179430748	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:179430748C>T	uc010zfg.1	-	275	72631	c.72407G>A	c.(72406-72408)TGG>TAG	p.W24136*	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Nonsense_Mutation_p.W17831*|TTN_uc010zfi.1_Nonsense_Mutation_p.W17764*|TTN_uc010zfj.1_Nonsense_Mutation_p.W17639*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	25063							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)			GGGTGGCTCCCATACCAGGAA	0.438													57	95					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179434595	179434595	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:179434595C>T	uc010zfg.1	-	275	68784	c.68560G>A	c.(68560-68562)GTA>ATA	p.V22854I	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V16549I|TTN_uc010zfi.1_Missense_Mutation_p.V16482I|TTN_uc010zfj.1_Missense_Mutation_p.V16357I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	23781							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)			GAAAGGAATACTGAAGATCTG	0.408													20	59					0	0	0.002299	0	0
TTN	7273	broad.mit.edu	37	2	179440668	179440668	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:179440668A>T	uc010zfg.1	-	275	62711	c.62487T>A	c.(62485-62487)TTT>TTA	p.F20829L	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.F14524L|TTN_uc010zfi.1_Missense_Mutation_p.F14457L|TTN_uc010zfj.1_Missense_Mutation_p.F14332L|uc002umv.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	21756							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)			TCAGAAGAGTAAATGATTCCG	0.403													83	161					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179442904	179442904	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:179442904G>A	uc010zfg.1	-	271	60858	c.60634C>T	c.(60634-60636)CTC>TTC	p.L20212F	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.L13907F|TTN_uc010zfi.1_Missense_Mutation_p.L13840F|TTN_uc010zfj.1_Missense_Mutation_p.L13715F|uc002umv.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	21139							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)			TTGAACTCGAGATGATACCCT	0.358													32	66					0	0	0.003755	0	0
TTN	7273	broad.mit.edu	37	2	179451886	179451886	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:179451886G>A	uc010zfg.1	-	256	56572	c.56348C>T	c.(56347-56349)CCA>CTA	p.P18783L	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P12478L|TTN_uc010zfi.1_Missense_Mutation_p.P12411L|TTN_uc010zfj.1_Missense_Mutation_p.P12286L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	19710							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)			GACATCTGTTGGGACGCCAGG	0.433													59	163					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179457531	179457531	+	Missense_Mutation	SNP	G	A	A	rs72646840	by1000genomes	TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:179457531G>A	uc010zfg.1	-	249	51835	c.51611C>T	c.(51610-51612)CCG>CTG	p.P17204L	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P10899L|TTN_uc010zfi.1_Missense_Mutation_p.P10832L|TTN_uc010zfj.1_Missense_Mutation_p.P10707L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	18131							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)			GACTGGCTCCGGAACATGAGC	0.408													36	89					0	0	0.006230	0	0
TTN	7273	broad.mit.edu	37	2	179458929	179458929	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:179458929C>T	uc010zfg.1	-	246	50711	c.50487G>A	c.(50485-50487)ACG>ACA	p.T16829T	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.T10524T|TTN_uc010zfi.1_Silent_p.T10457T|TTN_uc010zfj.1_Silent_p.T10332T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	17756							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)			CAACTCGAATCGTGAGCTTAT	0.418													26	51					0	0	0.003954	0	0
TTN	7273	broad.mit.edu	37	2	179478823	179478823	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:179478823C>T	uc010zfg.1	-	211	41821	c.41597G>A	c.(41596-41598)GGT>GAT	p.G13866D	uc002ump.1_RNA|TTN_uc010zfh.1_Missense_Mutation_p.G7561D|TTN_uc010zfi.1_Missense_Mutation_p.G7494D|TTN_uc010zfj.1_Missense_Mutation_p.G7369D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	14793							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)			AACTGGTTCACCAACACCATA	0.393													15	31					0	0	0.004990	0	0
TTN	7273	broad.mit.edu	37	2	179579889	179579889	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:179579889G>A	uc010zfg.1	-	87	22516	c.22292C>T	c.(22291-22293)TCT>TTT	p.S7431F	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S4092F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	8358							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)			TTTATACCAAGAAACGTGAAA	0.453													41	149					0	0	0.003214	0	0
TTN	7273	broad.mit.edu	37	2	179585326	179585326	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:179585326G>A	uc010zfg.1	-	77	19655	c.19431C>T	c.(19429-19431)CTC>CTT	p.L6477L	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.L3138L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	7404							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)			TTTCACATTGGAGAATCACAT	0.388													12	21					0	0	0.001855	0	0
TTN	7273	broad.mit.edu	37	2	179610611	179610611	+	Missense_Mutation	SNP	C	T	T	rs148430495	byFrequency	TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:179610611C>T	uc002unb.2	-	46	16740	c.16516G>A	c.(16516-16518)GAA>AAA	p.E5506K	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							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)			ACCTGAAATTCAAAAAAACTG	0.383													27	71					0	0	0.005443	0	0
TTN	7273	broad.mit.edu	37	2	179636057	179636057	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:179636057C>T	uc010zfg.1	-	34	8221	c.7997G>A	c.(7996-7998)AGA>AAA	p.R2666K	TTN_uc010zfh.1_Missense_Mutation_p.R2620K|TTN_uc010zfi.1_Missense_Mutation_p.R2620K|TTN_uc010zfj.1_Missense_Mutation_p.R2620K|TTN_uc002unb.2_Missense_Mutation_p.R2666K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2666							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)			AGACTCACTTCTGATGTTGTT	0.453													19	43					0	0	0.001523	0	0
TTN	7273	broad.mit.edu	37	2	179639813	179639813	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:179639813T>C	uc010zfg.1	-	29	6849	c.6625A>G	c.(6625-6627)AAA>GAA	p.K2209E	TTN_uc010zfh.1_Missense_Mutation_p.K2163E|TTN_uc010zfi.1_Missense_Mutation_p.K2163E|TTN_uc010zfj.1_Missense_Mutation_p.K2163E|TTN_uc002unb.2_Missense_Mutation_p.K2209E|uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2209							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)			ATACCATCTTTATACCATTTC	0.393													22	38					0	0	0.001523	0	0
TTN	7273	broad.mit.edu	37	2	179640461	179640461	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:179640461C>T	uc010zfg.1	-	28	6354	c.6130G>A	c.(6130-6132)GAG>AAG	p.E2044K	TTN_uc010zfh.1_Missense_Mutation_p.E1998K|TTN_uc010zfi.1_Missense_Mutation_p.E1998K|TTN_uc010zfj.1_Missense_Mutation_p.E1998K|TTN_uc002unb.2_Missense_Mutation_p.E2044K|uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2044							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)			TCAGTTAACTCTTTGGTCCAG	0.433													42	108					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179641269	179641269	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:179641269G>A	uc010zfg.1	-	28	5546	c.5322C>T	c.(5320-5322)ATC>ATT	p.I1774I	TTN_uc010zfh.1_Silent_p.I1728I|TTN_uc010zfi.1_Silent_p.I1728I|TTN_uc010zfj.1_Silent_p.I1728I|TTN_uc002unb.2_Silent_p.I1774I|uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1774							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)			TGCAAGTAATGATACCACTGT	0.423													22	52					0	0	0.002780	0	0
TTN	7273	broad.mit.edu	37	2	179641997	179641997	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:179641997C>A	uc010zfg.1	-	27	4917	c.4693G>T	c.(4693-4695)GTC>TTC	p.V1565F	TTN_uc010zfh.1_Missense_Mutation_p.V1519F|TTN_uc010zfi.1_Missense_Mutation_p.V1519F|TTN_uc010zfj.1_Missense_Mutation_p.V1519F|TTN_uc002unb.2_Missense_Mutation_p.V1565F|uc002unc.1_RNA	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1565							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)			TTTATATTGACATTTTTCAGT	0.398													27	49					7.92952e-12	1.03606e-11	0.003954	1	0
ZNF385B	151126	broad.mit.edu	37	2	180348096	180348096	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:180348096C>T	uc002unn.3	-	6	1177	c.573G>A	c.(571-573)ACG>ACA	p.T191T	ZNF385B_uc002unj.2_Silent_p.T89T|ZNF385B_uc002unk.2_RNA|ZNF385B_uc002unl.2_Silent_p.T88T|ZNF385B_uc002unm.2_Silent_p.T115T	NM_152520	NP_689733	Q569K4	Z385B_HUMAN	zinc finger protein 385B isoform 1	191						nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			GTTTATTTTTCGTTGCGTCTA	0.468													16	53					0	0	0.007413	0	0
NEUROD1	4760	broad.mit.edu	37	2	182543276	182543276	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:182543276C>T	uc002uof.2	-	2	548	c.312G>A	c.(310-312)ATG>ATA	p.M104I	CERKL_uc002uod.1_Intron	NM_002500	NP_002491	Q13562	NDF1_HUMAN	neurogenic differentiation 1	104	Basic motif.				amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CGTTAGCCTTCATGCGTCTCA	0.507													104	271					0	0	0.003610	0	0
PDE1A	5136	broad.mit.edu	37	2	183104927	183104927	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:183104927C>T	uc002uos.2	-	4	392	c.308G>A	c.(307-309)CGG>CAG	p.R103Q	PDE1A_uc010zfp.1_5'UTR|PDE1A_uc002uoq.1_Missense_Mutation_p.R103Q|PDE1A_uc010zfq.1_Missense_Mutation_p.R103Q|PDE1A_uc002uor.2_Missense_Mutation_p.R87Q|PDE1A_uc002uou.2_Missense_Mutation_p.R69Q	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	phosphodiesterase 1A isoform 2	103					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			skin(2)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.061)			CCCCATTTTCCGTGTAAAGGT	0.423													31	67					0	0	0.003271	0	0
DNAJC10	54431	broad.mit.edu	37	2	183593635	183593635	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:183593635G>A	uc002uow.1	+	7	962	c.547G>A	c.(547-549)GCT>ACT	p.A183T	DNAJC10_uc002uox.1_RNA|DNAJC10_uc002uoy.1_RNA|DNAJC10_uc002uoz.1_Missense_Mutation_p.A183T|DNAJC10_uc010fro.1_RNA	NM_018981	NP_061854	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	183	Thioredoxin 1.				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			ovary(1)|large_intestine(1)|breast(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TCGAATTGGAGCTGTTAACTG	0.403													32	63					0	0	0.002836	0	0
DNAJC10	54431	broad.mit.edu	37	2	183601005	183601005	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:183601005C>T	uc002uow.1	+	11	1294	c.879C>T	c.(877-879)GAC>GAT	p.D293D	DNAJC10_uc002uox.1_RNA|DNAJC10_uc002uoy.1_RNA|DNAJC10_uc002uoz.1_Intron|DNAJC10_uc010fro.1_Intron	NM_018981	NP_061854	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	293					apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			ovary(1)|large_intestine(1)|breast(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GATGGATGGACTGTGCCACCC	0.363													20	57					0	0	0.001882	0	0
DNAJC10	54431	broad.mit.edu	37	2	183640123	183640123	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:183640123C>T	uc002uow.1	+	23	2761	c.2346C>T	c.(2344-2346)CTC>CTT	p.L782L	DNAJC10_uc002uox.1_RNA|DNAJC10_uc002uoy.1_RNA|DNAJC10_uc002uoz.1_Silent_p.L736L|DNAJC10_uc010fro.1_RNA	NM_018981	NP_061854	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	782					apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			ovary(1)|large_intestine(1)|breast(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TGGAAACTCTCCGAAATCAAG	0.338													5	28					0	0	0.001168	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802564	185802564	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:185802564G>A	uc002uph.2	+	4	3035	c.2441G>A	c.(2440-2442)CGA>CAA	p.R814Q		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	814						intracellular	zinc ion binding			ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						AAACGGAGGCGAAAAAGAGGC	0.398													27	79					0	0	0.007291	0	0
ZC3H15	55854	broad.mit.edu	37	2	187370494	187370494	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:187370494C>T	uc002upo.2	+	8	1117	c.892C>T	c.(892-894)CGT>TGT	p.R298C		NM_018471	NP_060941	Q8WU90	ZC3HF_HUMAN	erythropoietin 4 immediate early response	298						cytoplasm|nucleolus|plasma membrane	nucleic acid binding|zinc ion binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			GTTTGAATTTCGTCCTGAACT	0.418													22	31					0	0	0.003330	0	0
CALCRL	10203	broad.mit.edu	37	2	188216918	188216918	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:188216918G>A	uc002upv.3	-	13	1599	c.1051C>T	c.(1051-1053)CTG>TTG	p.L351L	CALCRL_uc010frt.2_Silent_p.L351L	NM_005795	NP_005786	Q16602	CALRL_HUMAN	calcitonin receptor-like precursor	351	Helical; Name=6; (Potential).					integral to plasma membrane				lung(3)|ovary(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			CATGGAATCAGCACAAATTCA	0.433													8	45					0	0	0.003080	0	0
SDPR	8436	broad.mit.edu	37	2	192701210	192701210	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:192701210C>T	uc002utb.2	-	2	1047	c.717G>A	c.(715-717)GTG>GTA	p.V239V		NM_004657	NP_004648	O95810	SDPR_HUMAN	serum deprivation response protein	239	Potential.					caveola|cytosol	phosphatidylserine binding|protein binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	TGAGGCTATCCACTTTCTTCA	0.453													68	173					0	0	0.003610	0	0
CCDC150	284992	broad.mit.edu	37	2	197595583	197595583	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:197595583G>A	uc002utp.1	+	26	3118	c.2983G>A	c.(2983-2985)GAA>AAA	p.E995K	CCDC150_uc010zgs.1_Missense_Mutation_p.E642K	NM_001080539	NP_001074008	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	995	Potential.										0						ACATTTTCAGGAATTGGAAGA	0.368													10	9					0	0	0.008291	0	0
FASTKD2	22868	broad.mit.edu	37	2	207631569	207631569	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:207631569C>T	uc002vbu.2	+	2	562	c.152C>T	c.(151-153)CCA>CTA	p.P51L	MDH1B_uc010ziw.1_5'Flank|MDH1B_uc002vbs.2_5'Flank|MDH1B_uc010fui.2_5'Flank|MDH1B_uc010fuj.2_5'Flank|MDH1B_uc002vbt.2_5'Flank|FASTKD2_uc002vbv.2_Missense_Mutation_p.P51L|FASTKD2_uc002vbx.2_Missense_Mutation_p.P51L|FASTKD2_uc002vbw.1_Missense_Mutation_p.P51L	NM_001136193	NP_001129665	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	51					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			ovary(2)|skin(1)	3				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		CTTTGCAAACCAAAAATAGTT	0.328													12	35					0	0	0.001368	0	0
CPS1	1373	broad.mit.edu	37	2	211527860	211527860	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:211527860C>T	uc002vee.3	+	33	4073	c.3941C>T	c.(3940-3942)TCC>TTC	p.S1314F	CPS1_uc010fur.2_Missense_Mutation_p.S1320F|CPS1_uc010fus.2_Missense_Mutation_p.S863F	NM_001875	NP_001866	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform b	1314					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		CCCATGTTTTCCTGGCCCCGG	0.388													12	45					0	0	0.003163	0	0
ERBB4	2066	broad.mit.edu	37	2	212495282	212495282	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:212495282A>C	uc002veg.1	-	17	2082	c.1984T>G	c.(1984-1986)TTC>GTC	p.F662V	ERBB4_uc002veh.1_Missense_Mutation_p.F662V|ERBB4_uc010zji.1_Missense_Mutation_p.F652V|ERBB4_uc010zjj.1_Missense_Mutation_p.F652V|ERBB4_uc010fut.1_Missense_Mutation_p.F662V	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	662	Potential.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		ACCAGAATGAAGAGCCCACCA	0.403										TSP Lung(8;0.080)			21	65					0	0	0.002780	0	0
SPAG16	79582	broad.mit.edu	37	2	214878736	214878736	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:214878736C>T	uc002veq.2	+	13	1554	c.1462C>T	c.(1462-1464)CCT>TCT	p.P488S	SPAG16_uc010fuz.1_Missense_Mutation_p.P339S|SPAG16_uc002ver.2_Missense_Mutation_p.P434S|SPAG16_uc010zjk.1_Missense_Mutation_p.P394S	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16 isoform 1	488	WD 4.				cilium assembly	cilium axoneme|flagellar axoneme				ovary(1)|skin(1)	2		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TGAGTTTTTTCCTTTCTCCAA	0.363													25	87					0	0	0.004656	0	0
ABCA12	26154	broad.mit.edu	37	2	215872484	215872484	+	Silent	SNP	G	A	A	rs142281650		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:215872484G>A	uc002vew.2	-	19	2779	c.2559C>T	c.(2557-2559)TTC>TTT	p.F853F	ABCA12_uc002vev.2_Silent_p.F535F|ABCA12_uc010zjn.1_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	853					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTAACAGATGGAAGGAATTCA	0.378													25	50					0	0	0.006320	0	0
SMARCAL1	50485	broad.mit.edu	37	2	217297570	217297570	+	Silent	SNP	C	T	T	rs139469074		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:217297570C>T	uc002vgc.3	+	8	1794	c.1464C>T	c.(1462-1464)TCC>TCT	p.S488S	SMARCAL1_uc010fvf.2_RNA|SMARCAL1_uc002vgd.3_Silent_p.S488S|SMARCAL1_uc010fvg.2_Silent_p.S488S	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN	SWI/SNF-related matrix-associated	488	Helicase ATP-binding.				chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			ovary(3)|breast(3)|skin(1)	7		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		TGCCATCCTCCGTGCGCTTCA	0.517									Schimke_Immuno-Osseous_Dysplasia				38	70					0	0	0.002522	0	0
TNS1	7145	broad.mit.edu	37	2	218682684	218682684	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:218682684G>A	uc002vgt.2	-	24	4457	c.4059C>T	c.(4057-4059)TTC>TTT	p.F1353F	TNS1_uc002vgr.2_Silent_p.F1340F|TNS1_uc002vgs.2_Silent_p.F1332F|TNS1_uc010zjv.1_Silent_p.F1332F	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	1353						cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GGGAGACAGGGAAGGAGGGCG	0.652													4	8					0	0	0.000602	0	0
STK36	27148	broad.mit.edu	37	2	219561253	219561253	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:219561253C>T	uc002viu.2	+	22	2781	c.2515C>T	c.(2515-2517)CGG>TGG	p.R839W	STK36_uc002viv.2_Intron|STK36_uc002viw.2_Missense_Mutation_p.R18W|STK36_uc002vix.2_5'UTR	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	839					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	11		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		CTGACAGGTTCGGTTGACTCC	0.502													29	72					0	0	0.008361	0	0
SLC23A3	151295	broad.mit.edu	37	2	220027108	220027109	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:220027108_220027109GG>AA	uc010zks.1	-	11	1560_1561	c.1449_1450CC>TT	c.(1447-1452)AGCCCC>AGTTCC	p.P484S	NHEJ1_uc002vjp.3_5'Flank|NHEJ1_uc002vjq.3_RNA|SLC23A3_uc010zkr.1_Missense_Mutation_p.P492S|SLC23A3_uc010fwb.2_Missense_Mutation_p.P367S	NM_001144889	NP_001138361	Q6PIS1	S23A3_HUMAN	solute carrier family 23 (nucleobase	484	Extracellular (Potential).				transmembrane transport	integral to membrane	protein binding|transporter activity				0		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACATCCAAGGGGCTCCAGCCTA	0.53													11	17					0	0	0.004672	0	0
ABCB6	10058	broad.mit.edu	37	2	220080739	220080739	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:220080739G>A	uc002vkc.1	-	5	1411	c.1134C>T	c.(1132-1134)TCC>TCT	p.S378S	ABCB6_uc010fwe.1_Silent_p.S332S|ABCB6_uc010zku.1_Intron	NM_005689	NP_005680	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B, member 6	378	Helical; (Potential).|ABC transmembrane type-1.				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity			breast(1)|central_nervous_system(1)	2		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGTGACACTGGATGTGCCCC	0.667													5	9					0	0	0.001984	0	0
DNPEP	23549	broad.mit.edu	37	2	220246092	220246092	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:220246092G>A	uc010zlg.1	-	13	1310	c.1228C>T	c.(1228-1230)CGA>TGA	p.R410*	DNPEP_uc010zlf.1_RNA|DNPEP_uc002vle.2_Nonsense_Mutation_p.R402*|DNPEP_uc002vlf.1_Nonsense_Mutation_p.R388*|DNPEP_uc002vlh.2_Nonsense_Mutation_p.R349*|DNPEP_uc002vli.1_Nonsense_Mutation_p.R349*	NM_012100	NP_036232	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	392					peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding				0		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	L-Glutamic Acid(DB00142)	GCCACCTCTCGGATCAGGGCC	0.602													75	156					0	0	0.003610	0	0
EPHA4	2043	broad.mit.edu	37	2	222291234	222291234	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:222291234G>A	uc002vmq.2	-	16	2838	c.2796C>T	c.(2794-2796)TTC>TTT	p.F932F	EPHA4_uc002vmr.2_Silent_p.F932F|EPHA4_uc010zlm.1_Silent_p.F873F|EPHA4_uc010zln.1_Silent_p.F932F	NM_004438	NP_004429	P54764	EPHA4_HUMAN	ephrin receptor EphA4 precursor	932	Cytoplasmic (Potential).|SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.F932F(2)		lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	12		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CAGCAGCTGTGAAGTTATCCT	0.463													5	38					0	0	0.001168	0	0
KIAA1486	57624	broad.mit.edu	37	2	226446840	226446840	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:226446840G>A	uc002voe.2	+	4	882	c.707G>A	c.(706-708)GGA>GAA	p.G236E	KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Missense_Mutation_p.G6E	NM_020864	NP_065915	Q9P242	K1486_HUMAN	hypothetical protein LOC57624	236										ovary(2)|central_nervous_system(1)	3		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)		AGCCCCGCGGGAGACCCCGAG	0.602													32	81					0	0	0.002096	0	0
COL4A4	1286	broad.mit.edu	37	2	227968696	227968696	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:227968696C>T	uc010zlt.1	-	13	1462	c.808G>A	c.(808-810)GGA>AGA	p.G270R		NM_000092	NP_000083	P53420	CO4A4_HUMAN	alpha 4 type IV collagen precursor	270	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		ACCTTTTCTCCTTTATAGAGA	0.388													12	25					0	0	0.000978	0	0
SPHKAP	80309	broad.mit.edu	37	2	228855764	228855764	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:228855764C>T	uc002vpq.2	-	11	4958	c.4911G>A	c.(4909-4911)GGG>GGA	p.G1637G	SPHKAP_uc002vpp.2_Silent_p.G1608G|SPHKAP_uc010zlx.1_Intron	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	1637						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TGGTGGGAATCCCCAGTTCAG	0.483													11	40					0	0	0.000978	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882330	228882330	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:228882330G>A	uc002vpq.2	-	7	3287	c.3240C>T	c.(3238-3240)GCC>GCT	p.A1080A	SPHKAP_uc002vpp.2_Silent_p.A1080A|SPHKAP_uc010zlx.1_Silent_p.A1080A	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	1080						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CGCAGCTGGAGGCCTTCAGCC	0.612													16	48					0	0	0.004990	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882856	228882856	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:228882856C>T	uc002vpq.2	-	7	2761	c.2714G>A	c.(2713-2715)GGG>GAG	p.G905E	SPHKAP_uc002vpp.2_Missense_Mutation_p.G905E|SPHKAP_uc010zlx.1_Missense_Mutation_p.G905E	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	905						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CAGGTCATCCCCTAACAAGGA	0.493													59	81					0	0	0.003610	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883935	228883935	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:228883935C>A	uc002vpq.2	-	7	1682	c.1635G>T	c.(1633-1635)AAG>AAT	p.K545N	SPHKAP_uc002vpp.2_Missense_Mutation_p.K545N|SPHKAP_uc010zlx.1_Missense_Mutation_p.K545N	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	545						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TGGAAGGTTCCTTGAGTCCTT	0.537													21	54					3.83957e-06	4.97988e-06	0.002780	1	0
SPHKAP	80309	broad.mit.edu	37	2	228884203	228884203	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:228884203G>A	uc002vpq.2	-	7	1414	c.1367C>T	c.(1366-1368)CCA>CTA	p.P456L	SPHKAP_uc002vpp.2_Missense_Mutation_p.P456L|SPHKAP_uc010zlx.1_Missense_Mutation_p.P456L	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	456						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ACTGCCATCTGGACTCTGAAC	0.512													25	54					0	0	0.004656	0	0
PSMD1	5707	broad.mit.edu	37	2	231936974	231936974	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:231936974C>T	uc002vrn.1	+	7	857	c.726C>T	c.(724-726)CTC>CTT	p.L242L	PSMD1_uc002vrm.1_Silent_p.L242L|PSMD1_uc010fxu.1_Silent_p.L106L	NM_002807	NP_002798	Q99460	PSMD1_HUMAN	proteasome 26S non-ATPase subunit 1	242					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			ovary(1)|skin(1)	2		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	AAGACAACCTCCTGATGGCAT	0.378													42	90					0	0	0.002522	0	0
PSMD1	5707	broad.mit.edu	37	2	231937110	231937110	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:231937110C>T	uc002vrn.1	+	7	993	c.862C>T	c.(862-864)CCG>TCG	p.P288S	PSMD1_uc002vrm.1_Missense_Mutation_p.P288S|PSMD1_uc010fxu.1_Missense_Mutation_p.P152S	NM_002807	NP_002798	Q99460	PSMD1_HUMAN	proteasome 26S non-ATPase subunit 1	288					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			ovary(1)|skin(1)	2		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	GGGTACTGTTCCGGGATCAGA	0.398													33	73					0	0	0.002445	0	0
PSMD1	5707	broad.mit.edu	37	2	232030645	232030645	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:232030645T>G	uc002vrn.1	+	23	2760	c.2629T>G	c.(2629-2631)TTA>GTA	p.L877V		NM_002807	NP_002798	Q99460	PSMD1_HUMAN	proteasome 26S non-ATPase subunit 1	877					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			ovary(1)|skin(1)	2		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	AAACTTCCAGTTATTGGATAA	0.408													38	55					0	0	0.004289	0	0
SAG	6295	broad.mit.edu	37	2	234217864	234217864	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:234217864C>T	uc002vuh.2	+	2	417	c.29C>T	c.(28-30)TCC>TTC	p.S10F	SAG_uc002vug.2_Intron|SAG_uc010zmq.1_5'UTR	NM_000541	NP_000532	P10523	ARRS_HUMAN	S-arrestin	10					rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			ovary(1)	1		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		ACCAGCAAGTCCGAACCGAAC	0.463													5	23					0	0	0.001168	0	0
UGT1A4	54657	broad.mit.edu	37	2	234628150	234628150	+	Silent	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:234628150T>C	uc002vux.2	+	1	713	c.684T>C	c.(682-684)TCT>TCC	p.S228S	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Silent_p.S228S	NM_007120	NP_009051	P22310	UD14_HUMAN	UDP glycosyltransferase 1 family, polypeptide A4	228					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			skin(1)	1		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)	Imipramine(DB00458)|Lamotrigine(DB00555)|Paricalcitol(DB00910)|Trifluoperazine(DB00831)	ATACTTTTTCTGCCCCTTATG	0.488													62	106					0	0	0.003610	0	0
DNAJB3	414061	broad.mit.edu	37	2	234652190	234652190	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:234652190C>T	uc002vuz.2	-	1	472	c.373G>A	c.(373-375)GGG>AGG	p.G125R	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Intron|UGT1A3_uc002vuy.2_Intron	NM_001001394	NP_001001394	Q8WWF6	DNJB3_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 3	125					protein folding		heat shock protein binding|unfolded protein binding				0						TCCTCTGACCCCCCCAAAATA	0.547													13	29					0	0	0.002450	0	0
MSL3L2	151507	broad.mit.edu	37	2	234775127	234775127	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:234775127G>A	uc010znf.1	-	2	953	c.715C>T	c.(715-717)CCT>TCT	p.P239S		NR_024322				SubName: Full=cDNA FLJ52683, highly similar to Male-specific lethal 3-like 1; SubName: Full=cDNA, FLJ79271, highly similar to Male-specific lethal 3-like 1; SubName: Full=HCG1642047;												0						TCCTGGCTAGGAGTCAGAGTA	0.512													22	39					0	0	0.003954	0	0
MSL3L2	151507	broad.mit.edu	37	2	234775432	234775432	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:234775432C>T	uc010znf.1	-	2	648	c.410G>A	c.(409-411)AGG>AAG	p.R137K		NR_024322				SubName: Full=cDNA FLJ52683, highly similar to Male-specific lethal 3-like 1; SubName: Full=cDNA, FLJ79271, highly similar to Male-specific lethal 3-like 1; SubName: Full=HCG1642047;												0						CTCCTGGCTCCTATTAGTATT	0.463													3	15					0	0	0.004672	0	0
COL6A3	1293	broad.mit.edu	37	2	238249377	238249377	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:238249377C>T	uc002vwl.2	-	38	8467	c.8182G>A	c.(8182-8184)GAA>AAA	p.E2728K	COL6A3_uc002vwo.2_Missense_Mutation_p.E2522K|COL6A3_uc010znj.1_Missense_Mutation_p.E2121K|COL6A3_uc002vwj.2_Missense_Mutation_p.E109K	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	2728	VWFA 12.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGGGCACTTTCAAAGACATTC	0.562													28	58					0	0	0.008361	0	0
COL6A3	1293	broad.mit.edu	37	2	238280629	238280629	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:238280629G>A	uc002vwl.2	-	9	4316	c.4031C>T	c.(4030-4032)TCG>TTG	p.S1344L	COL6A3_uc002vwo.2_Missense_Mutation_p.S1138L|COL6A3_uc010znj.1_Missense_Mutation_p.S737L|COL6A3_uc002vwq.2_Missense_Mutation_p.S1138L|COL6A3_uc002vwr.2_Missense_Mutation_p.S937L	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	1344	VWFA 7.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTTTCCAGACGAGATGAGGAC	0.612													10	20					0	0	0.000978	0	0
OTOS	150677	broad.mit.edu	37	2	241078603	241078603	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:241078603G>A	uc002vyv.2	-	4	409	c.254C>T	c.(253-255)CCC>CTC	p.P85L	MYEOV2_uc002vyu.1_5'Flank|MYEOV2_uc010zof.1_5'Flank	NM_148961	NP_683764	Q8NHW6	OTOSP_HUMAN	otospiralin precursor	85						extracellular region					0		all_epithelial(40;2.79e-15)|Breast(86;3.04e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|Hepatocellular(293;0.148)|all_hematologic(139;0.158)|Melanoma(123;0.16)		Epithelial(32;2.56e-30)|all cancers(36;7.18e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.37e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.07e-06)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		CTCCTGATAGGGAACGTGGAA	0.662													10	25					0	0	0.008291	0	0
RNPEPL1	57140	broad.mit.edu	37	2	241514528	241514528	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:241514528G>A	uc002vzi.2	+	7	1270	c.677G>A	c.(676-678)GGA>GAA	p.G226E	RNPEPL1_uc010fzf.2_Missense_Mutation_p.G132E|RNPEPL1_uc002vzj.2_5'Flank	NM_018226	NP_060696	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like	226					leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding			large_intestine(1)|skin(1)	2		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		CAGCTCTGCGGAGACCCACAG	0.627													24	52					0	0	0.003330	0	0
CAPN10	11132	broad.mit.edu	37	2	241537768	241537768	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:241537768G>A	uc002vzk.1	+	11	2128	c.1944_splice	c.e11-1	p.R648_splice	CAPN10_uc002vzl.1_Splice_Site_p.R493_splice|CAPN10_uc002vzm.1_Splice_Site_p.R114_splice|CAPN10_uc002vzn.1_Splice_Site_p.R520_splice|CAPN10_uc002vzo.1_Splice_Site|CAPN10_uc010fzg.1_Splice_Site|CAPN10_uc002vzp.1_Splice_Site|CAPN10_uc002vzq.1_Intron	NM_023083	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10 isoform a						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	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding			ovary(3)|large_intestine(2)|lung(1)	6		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)		TCTCTCCACAGGCCATCCATT	0.632													8	33					0	0	0.008291	0	0
C20orf46	55321	broad.mit.edu	37	20	1161792	1161792	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:1161792C>T	uc010gaa.1	-	3	690	c.471G>A	c.(469-471)CGG>CGA	p.R157R	C20orf46_uc002weq.1_Silent_p.R157R	NM_018354	NP_060824	Q9NUR3	CT046_HUMAN	hypothetical protein LOC55321	157						integral to membrane	protein binding			ovary(1)	1						GTTCCATCTCCCGCGCTGTCA	0.617													12	24					0	0	0.001368	0	0
PDYN	5173	broad.mit.edu	37	20	1961245	1961245	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:1961245G>A	uc010gaj.2	-	3	731	c.489C>T	c.(487-489)CTC>CTT	p.L163L	uc002wfu.1_Intron|PDYN_uc002wfv.2_Silent_p.L163L|PDYN_uc010zpt.1_Silent_p.L8L	NM_024411	NP_077722	P01213	PDYN_HUMAN	beta-neoendorphin-dynorphin preproprotein	163					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity			upper_aerodigestive_tract(1)|ovary(1)	2						CCTCCTCAGCGAGATAGAGTG	0.592													27	60					0	0	0.008361	0	0
TGM6	343641	broad.mit.edu	37	20	2381043	2381043	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:2381043G>A	uc002wfy.1	+	7	1003	c.942G>A	c.(940-942)GTG>GTA	p.V314V	TGM6_uc010gal.1_Silent_p.V314V	NM_198994	NP_945345	O95932	TGM3L_HUMAN	transglutaminase 6	314					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(3)|skin(1)	4					L-Glutamine(DB00130)	ACAAATACGTGGACTCCTTCG	0.617													32	43					0	0	0.005524	0	0
GNRH2	2797	broad.mit.edu	37	20	3025445	3025445	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:3025445C>T	uc002whr.1	+	3	326	c.275C>T	c.(274-276)TCC>TTC	p.S92F	GNRH2_uc002whp.1_Missense_Mutation_p.S85F|GNRH2_uc002whq.1_Missense_Mutation_p.S84F|GNRH2_uc010gau.1_Missense_Mutation_p.S92F|MRPS26_uc002whs.2_5'Flank	NM_001501	NP_001492	O43555	GON2_HUMAN	gonadotropin-releasing hormone 2 isoform a	92					multicellular organismal development|signal transduction	extracellular region|soluble fraction	hormone activity				0						GCCCAGTGGTCCCTTCACAGG	0.647													11	24					0	0	0.001368	0	0
C20orf194	25943	broad.mit.edu	37	20	3251088	3251088	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:3251088T>A	uc002wii.2	-	30	2822	c.2771A>T	c.(2770-2772)AAT>ATT	p.N924I	C20orf194_uc002wij.3_Missense_Mutation_p.N663I|C20orf194_uc002wik.2_Missense_Mutation_p.N598I	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	hypothetical protein LOC25943	924											0						GACAATCCCATTTTCTGCAAG	0.507													60	69					0	0	0.003610	0	0
RASSF2	9770	broad.mit.edu	37	20	4773227	4773228	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:4773227_4773228CC>TT	uc002wld.2	-	5	387_388	c.333_334GG>AA	c.(331-336)GAGGTG>GAAATG	p.V112M	RASSF2_uc002wlc.2_RNA|RASSF2_uc002wle.2_RNA|RASSF2_uc002wlf.2_Missense_Mutation_p.V112M	NM_170774	NP_739580	P50749	RASF2_HUMAN	Ras association domain family 2	112					cell cycle|signal transduction	nucleus	protein binding			ovary(3)|lung(2)|large_intestine(1)	6						GGGGCATCCACCTCTGAGATCT	0.564													12	27					0	0	0.004672	0	0
PROKR2	128674	broad.mit.edu	37	20	5282769	5282769	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:5282769C>T	uc010zqw.1	-	2	1072	c.1072G>A	c.(1072-1074)GGG>AGG	p.G358R	PROKR2_uc010zqx.1_Missense_Mutation_p.G358R|PROKR2_uc010zqy.1_Missense_Mutation_p.G358R	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	358	Cytoplasmic (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5						GACTTGCTCCCCCGCTGGGAG	0.552										HNSCC(71;0.22)			21	57					0	0	0.001523	0	0
PLCB1	23236	broad.mit.edu	37	20	8628581	8628581	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:8628581G>C	uc002wnb.2	+	6	502	c.499G>C	c.(499-501)GGG>CGG	p.G167R	PLCB1_uc010zrb.1_Missense_Mutation_p.G66R|PLCB1_uc010gbv.1_Missense_Mutation_p.G167R|PLCB1_uc002wmz.1_Missense_Mutation_p.G167R|PLCB1_uc002wna.2_Missense_Mutation_p.G167R|PLCB1_uc002wnc.1_Missense_Mutation_p.G66R	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	167					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						CACTCCAGAAGGGCGTATTCC	0.313													59	71					0	0	0.003610	0	0
PLCB1	23236	broad.mit.edu	37	20	8707959	8707959	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:8707959G>A	uc002wnb.2	+	17	1685	c.1682G>A	c.(1681-1683)AGA>AAA	p.R561K	PLCB1_uc010zrb.1_Missense_Mutation_p.R460K|PLCB1_uc002wna.2_Missense_Mutation_p.R561K|PLCB1_uc002wnc.1_Missense_Mutation_p.R460K|PLCB1_uc002wnd.1_Missense_Mutation_p.R138K	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	561	PI-PLC Y-box.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						AACTCAGAAAGAAATAAAAGT	0.318													10	47					0	0	0.006214	0	0
PLCB1	23236	broad.mit.edu	37	20	8770196	8770196	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:8770196C>T	uc002wnb.2	+	30	3313	c.3310C>T	c.(3310-3312)CAG>TAG	p.Q1104*	PLCB1_uc002wna.2_Nonsense_Mutation_p.Q1104*	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	1104					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						GTCATATATCCAGGAAGTGGT	0.383													50	74					0	0	0.003610	0	0
ANKRD5	63926	broad.mit.edu	37	20	10019183	10019183	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:10019183C>T	uc002wno.2	+	3	627	c.234C>T	c.(232-234)GAC>GAT	p.D78D	uc002wnn.1_Intron|ANKRD5_uc002wnp.2_Silent_p.D78D|ANKRD5_uc010gbz.2_5'UTR	NM_022096	NP_071379	Q9NU02	ANKR5_HUMAN	ankyrin repeat domain protein 5	78							calcium ion binding			ovary(1)|breast(1)	2						ATGTGCAAGACCGAATGGGCT	0.443													25	43					0	0	0.004656	0	0
ANKRD5	63926	broad.mit.edu	37	20	10026277	10026277	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:10026277G>A	uc002wno.2	+	6	1145	c.752G>A	c.(751-753)GGG>GAG	p.G251E	uc002wnn.1_Intron|ANKRD5_uc002wnp.2_Missense_Mutation_p.G251E|ANKRD5_uc010gbz.2_Missense_Mutation_p.G62E	NM_022096	NP_071379	Q9NU02	ANKR5_HUMAN	ankyrin repeat domain protein 5	251	ANK 4.						calcium ion binding			ovary(1)|breast(1)	2						TCGATAAATGGGAACACACCA	0.388													19	63					0	0	0.008871	0	0
ANKRD5	63926	broad.mit.edu	37	20	10030294	10030294	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:10030294C>T	uc002wno.2	+	7	1470	c.1077C>T	c.(1075-1077)TTC>TTT	p.F359F	uc002wnn.1_Intron|ANKRD5_uc002wnp.2_Silent_p.F359F|ANKRD5_uc010gbz.2_Silent_p.F170F	NM_022096	NP_071379	Q9NU02	ANKR5_HUMAN	ankyrin repeat domain protein 5	359	EF-hand.						calcium ion binding			ovary(1)|breast(1)	2						AGAACGACTTCGTGATGGTGT	0.527													22	79					0	0	0.002299	0	0
ANKRD5	63926	broad.mit.edu	37	20	10030800	10030800	+	Missense_Mutation	SNP	C	T	T	rs145395317		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:10030800C>T	uc002wno.2	+	7	1976	c.1583C>T	c.(1582-1584)CCG>CTG	p.P528L	uc002wnn.1_Intron|ANKRD5_uc002wnp.2_Missense_Mutation_p.P528L|ANKRD5_uc010gbz.2_Missense_Mutation_p.P339L	NM_022096	NP_071379	Q9NU02	ANKR5_HUMAN	ankyrin repeat domain protein 5	528	ANK 5.						calcium ion binding			ovary(1)|breast(1)	2						TACAAAACTCCGCTAATGACG	0.423													20	32					0	0	0.002780	0	0
C20orf94	128710	broad.mit.edu	37	20	10603735	10603735	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:10603735C>T	uc010zre.1	+	8	1115	c.935C>T	c.(934-936)TCT>TTT	p.S312F		NM_001009608	NP_001009608	Q5VYV7	CT094_HUMAN	hypothetical protein LOC128710	312							protein binding				0						GGGAGAGTTTCTCTTGGAAGT	0.483													58	94					0	0	0.003610	0	0
C20orf12	55184	broad.mit.edu	37	20	18370464	18370464	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:18370464G>A	uc010zsa.1	-	19	2165	c.1956C>T	c.(1954-1956)GAC>GAT	p.D652D	C20orf12_uc010zrz.1_Silent_p.D171D|C20orf12_uc002wqp.3_Silent_p.D343D|C20orf12_uc002wqr.3_RNA|C20orf12_uc002wqs.3_Silent_p.D519D|C20orf12_uc002wqq.3_Silent_p.D633D	NM_001099407	NP_001092877	Q9NVP4	CT012_HUMAN	hypothetical protein LOC55184	460	ANK 1.					intracellular	zinc ion binding			ovary(1)	1		Myeloproliferative disorder(85;0.0122)				AGCAGTTGGGGTCTGCTCCCT	0.488													39	97					0	0	0.002222	0	0
SLC24A3	57419	broad.mit.edu	37	20	19677462	19677462	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:19677462C>T	uc002wrl.2	+	14	1710	c.1513C>T	c.(1513-1515)CTG>TTG	p.L505L		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	solute carrier family 24	505	Helical; (Potential).					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			ovary(1)	1						TGGTTACACCCTGGGGATTCC	0.572													30	49					0	0	0.004289	0	0
SLC24A3	57419	broad.mit.edu	37	20	19701694	19701694	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:19701694C>T	uc002wrl.2	+	17	2042	c.1845C>T	c.(1843-1845)CTC>CTT	p.L615L		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	solute carrier family 24	615	Cytoplasmic (Potential).					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			ovary(1)	1						GTGGGTGCCTCCTCCTGTATG	0.592													40	74					0	0	0.008740	0	0
CRNKL1	51340	broad.mit.edu	37	20	20033190	20033190	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:20033190C>T	uc002wrs.2	-	2	312	c.280G>A	c.(280-282)GAG>AAG	p.E94K	C20orf26_uc010gcw.1_5'Flank|C20orf26_uc010zse.1_5'Flank|C20orf26_uc002wru.2_5'Flank|CRNKL1_uc002wrt.1_Missense_Mutation_p.E82K	NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN	crooked neck-like 1 protein	94					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			ovary(2)|large_intestine(1)	3						TGCGCGTCCTCCTTGCGGCAG	0.662													24	40					0	0	0.002780	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20484092	20484092	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:20484092C>T	uc002wrz.2	-	35	5254	c.5111G>A	c.(5110-5112)GGG>GAG	p.G1704E	RALGAPA2_uc010gcx.2_Missense_Mutation_p.G1408E|RALGAPA2_uc010zsg.1_Missense_Mutation_p.G1152E|RALGAPA2_uc002wsa.1_Missense_Mutation_p.G476E	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	akt substrate AS250	1704	Rap-GAP.				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(1)	1						GGCCGTCTGCCCGGTGCTGCC	0.502													9	20					0	0	0.004482	0	0
CST11	140880	broad.mit.edu	37	20	23433368	23433368	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:23433368C>T	uc002wtf.1	-	1	115	c.81G>A	c.(79-81)AGG>AGA	p.R27R	CST11_uc002wtg.1_Silent_p.R27R	NM_130794	NP_570612	Q9H112	CST11_HUMAN	cystatin 11 isoform 1 precursor	27					defense response to bacterium	cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity				0	Colorectal(13;0.0431)|Lung NSC(19;0.235)					AGGTTTTCTTCCTTGCTTGGT	0.507													29	78					0	0	0.005443	0	0
HM13	81502	broad.mit.edu	37	20	30126009	30126009	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:30126009C>T	uc002wwe.2	+	3	424	c.310C>T	c.(310-312)CTG>TTG	p.L104L	HM13_uc002wwc.2_Silent_p.L104L|HM13_uc002wwd.2_Silent_p.L104L|HM13_uc002wwb.1_Silent_p.L104L	NM_030789	NP_110416	Q8TCT9	HM13_HUMAN	minor histocompatibility antigen 13 isoform 1	104	Helical; (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)			CATCAACCTCCTGCTGTCCAT	0.502													49	44					0	0	0.003610	0	0
MAPRE1	22919	broad.mit.edu	37	20	31421626	31421626	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:31421626C>T	uc002wyh.2	+	3	364	c.225C>T	c.(223-225)TTC>TTT	p.F75F		NM_012325	NP_036457	Q15691	MARE1_HUMAN	microtubule-associated protein, RP/EB family,	75	CH.				cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule	centrosome|cortical microtubule cytoskeleton|cytosol	microtubule plus-end binding|protein C-terminus binding				0						TCCAGAACTTCAAAATACTAC	0.383													50	72					0	0	0.003610	0	0
MYH7B	57644	broad.mit.edu	37	20	33575683	33575683	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:33575683G>A	uc002xbi.1	+	16	1600	c.1508G>A	c.(1507-1509)GGG>GAG	p.G503E	MIR499_hsa-mir-499|MI0003183_5'Flank	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	myosin, heavy polypeptide 7B, cardiac muscle,	461	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TTCTTCATCGGGGTTCTGGAC	0.607													45	47					0	0	0.003610	0	0
MYH7B	57644	broad.mit.edu	37	20	33578591	33578591	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:33578591C>T	uc002xbi.1	+	21	2246	c.2154C>T	c.(2152-2154)TTC>TTT	p.F718F		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	myosin, heavy polypeptide 7B, cardiac muscle,	676	Myosin head-like.|Actin-binding (By similarity).					membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AGCCCCACTTCGTCCGCTGCA	0.617													11	38					0	0	0.001368	0	0
PROCR	10544	broad.mit.edu	37	20	33764058	33764058	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:33764058G>A	uc002xbt.2	+	3	594	c.410G>A	c.(409-411)GGG>GAG	p.G137E	EDEM2_uc010zuv.1_Intron|PROCR_uc010zuw.1_Missense_Mutation_p.G174E	NM_006404	NP_006395	Q9UNN8	EPCR_HUMAN	endothelial protein C receptor precursor	137	Extracellular (Potential).				antigen processing and presentation|blood coagulation|immune response	integral to plasma membrane|MHC class I protein complex	receptor activity				0			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	GCTGTGAATGGGAGCTCCTTT	0.597													43	61					0	0	0.002222	0	0
EPB41L1	2036	broad.mit.edu	37	20	34810283	34810283	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:34810283C>T	uc002xfb.2	+	21	2775	c.2604C>T	c.(2602-2604)GAC>GAT	p.D868D	EPB41L1_uc002xeu.2_Silent_p.D766D|EPB41L1_uc002xev.2_Silent_p.D867D|EPB41L1_uc002xew.2_Silent_p.D759D|EPB41L1_uc002xex.2_Silent_p.D688D|EPB41L1_uc002xey.2_Silent_p.D618D|EPB41L1_uc002xez.2_Silent_p.D766D|EPB41L1_uc010gfq.2_Silent_p.D966D	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	868	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			ovary(2)|pancreas(1)	3	Breast(12;0.0239)					GAGAAACAGACCCATCCCCAG	0.552													48	55					0	0	0.003610	0	0
ACTR5	79913	broad.mit.edu	37	20	37384523	37384523	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:37384523G>A	uc002xjd.2	+	5	1042	c.1017G>A	c.(1015-1017)ATG>ATA	p.M339I		NM_024855	NP_079131	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog	339					DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair	cytoplasm|Ino80 complex	ATP binding|protein binding				0		Myeloproliferative disorder(115;0.00878)				ATGGCCAGATGGATCAGTTTC	0.488													66	102					0	0	0.003610	0	0
CHD6	84181	broad.mit.edu	37	20	40162107	40162107	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:40162107C>T	uc002xka.1	-	3	314	c.136G>A	c.(136-138)GAG>AAG	p.E46K	CHD6_uc002xkd.2_Missense_Mutation_p.E24K|CHD6_uc002xkc.2_Missense_Mutation_p.E81K	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	46					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				TCAATTTTCTCTTCTTGATCA	0.418													34	90					0	0	0.003271	0	0
PTPRT	11122	broad.mit.edu	37	20	40713329	40713329	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:40713329G>A	uc002xkg.2	-	29	4313	c.4129C>T	c.(4129-4131)CAC>TAC	p.H1377Y	PTPRT_uc010ggj.2_Missense_Mutation_p.H1396Y|PTPRT_uc010ggi.2_Missense_Mutation_p.H580Y	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1377	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.				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)				CACAGGCAGTGGACCACAGTA	0.607													5	16					0	0	0.000602	0	0
PTPRT	11122	broad.mit.edu	37	20	41306506	41306506	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:41306506C>T	uc002xkg.2	-	7	1337	c.1153G>A	c.(1153-1155)GAT>AAT	p.D385N	PTPRT_uc010ggj.2_Missense_Mutation_p.D385N	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	385	Extracellular (Potential).				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)				AAAATCTTACCTGCACACTTG	0.532													16	45					0	0	0.004990	0	0
PTPRT	11122	broad.mit.edu	37	20	41306746	41306746	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:41306746G>A	uc002xkg.2	-	7	1097	c.913C>T	c.(913-915)CTG>TTG	p.L305L	PTPRT_uc010ggj.2_Silent_p.L305L	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	305	Extracellular (Potential).|Fibronectin type-III 1.				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)				TTGATCCACAGGTATGTGGCC	0.542													36	30					0	0	0.005524	0	0
PI3	5266	broad.mit.edu	37	20	43804687	43804687	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:43804687C>T	uc002xng.2	+	2	289	c.265C>T	c.(265-267)CCT>TCT	p.P89S		NM_002638	NP_002629	P19957	ELAF_HUMAN	elafin preproprotein	89	WAP.				copulation	proteinaceous extracellular matrix	serine-type endopeptidase inhibitor activity				0		Myeloproliferative disorder(115;0.0122)				GTTGAATCCCCCTAACCGCTG	0.527													31	50					0	0	0.002096	0	0
SEMG1	6406	broad.mit.edu	37	20	43837183	43837183	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:43837183A>T	uc002xni.2	+	2	1302	c.1245A>T	c.(1243-1245)CAA>CAT	p.Q415H	SEMG1_uc002xnj.2_Missense_Mutation_p.Q355H|SEMG2_uc010ggz.2_Intron|SEMG1_uc002xnh.2_Missense_Mutation_p.Q355H	NM_003007	NP_002998	P04279	SEMG1_HUMAN	semenogelin I preproprotein	415	42 AA repeat 3.				insemination|sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			skin(2)	2		Myeloproliferative disorder(115;0.0122)				ATAGAGAACAAGACCTACTCA	0.433													34	44					0	0	0.002445	0	0
SEMG2	6407	broad.mit.edu	37	20	43851922	43851922	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:43851922C>T	uc010ggz.2	+	2	1706	c.1649C>T	c.(1648-1650)TCC>TTC	p.S550F	SEMG2_uc002xnk.2_Missense_Mutation_p.S550F|SEMG2_uc002xnl.2_Missense_Mutation_p.S430F	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	semenogelin II precursor	550	Repeat-rich region.|3-2.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			skin(1)	1		Myeloproliferative disorder(115;0.0122)				AAACAGGAATCCAGTGAGTCA	0.378													22	39					0	0	0.002299	0	0
SDC4	6385	broad.mit.edu	37	20	43956024	43956024	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:43956024G>A	uc002xnu.2	-	5	517	c.477C>T	c.(475-477)CTC>CTT	p.L159L	SDC4_uc010zws.1_Silent_p.L87L	NM_002999	NP_002990	P31431	SDC4_HUMAN	syndecan 4 precursor	159	Helical; (Potential).					extracellular region|integral to plasma membrane	cytoskeletal protein binding|thrombospondin receptor activity				0		Myeloproliferative disorder(115;0.0122)				AGACGGCAAAGAGGATGCCCA	0.537													15	19					0	0	0.003163	0	0
TP53TG5	27296	broad.mit.edu	37	20	44003911	44003911	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:44003911G>A	uc002xny.2	-	4	617	c.536C>T	c.(535-537)ACC>ATC	p.T179I	SYS1_uc002xnw.1_3'UTR|SYS1-DBNDD2_uc002xnx.2_Intron	NM_014477	NP_055292	Q9Y2B4	T53G5_HUMAN	TP53-target gene 5 protein	179					intracellular signal transduction|negative regulation of cell growth	cytoplasm|nucleus				central_nervous_system(1)	1						GGGGCCCTCGGTGAGTGGTTG	0.552													29	92					0	0	0.007291	0	0
SLC12A5	57468	broad.mit.edu	37	20	44686191	44686191	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:44686191C>T	uc010zxl.1	+	26	3443	c.3367C>T	c.(3367-3369)CGG>TGG	p.R1123W	SLC12A5_uc002xrb.2_Missense_Mutation_p.R1100W	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium-chloride	1123	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCACCTGGACCGGGTGATGCT	0.532													38	53					0	0	0.003610	0	0
SULF2	55959	broad.mit.edu	37	20	46331341	46331341	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:46331341G>A	uc002xto.2	-	4	819	c.489C>T	c.(487-489)CTC>CTT	p.L163L	SULF2_uc002xtr.2_Silent_p.L163L|SULF2_uc002xtq.2_Silent_p.L163L|SULF2_uc010ghv.1_Silent_p.L163L	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	sulfatase 2 isoform a precursor	163					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			ovary(2)|breast(2)|pancreas(1)|skin(1)	6						AGTTTTTAAGGAGTCCGACCC	0.542													25	40					0	0	0.006320	0	0
SULF2	55959	broad.mit.edu	37	20	46365559	46365559	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:46365559G>A	uc002xto.2	-	3	633	c.303C>T	c.(301-303)GTC>GTT	p.V101V	SULF2_uc002xtr.2_Silent_p.V101V|SULF2_uc002xtq.2_Silent_p.V101V|SULF2_uc010ghv.1_Silent_p.V101V	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	sulfatase 2 isoform a precursor	101					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			ovary(2)|breast(2)|pancreas(1)|skin(1)	6						TGTGGTTGTGGACGTACTTGC	0.602													21	32					0	0	0.001882	0	0
PTGIS	5740	broad.mit.edu	37	20	48156158	48156158	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:48156158G>A	uc002xut.2	-	5	676	c.622C>T	c.(622-624)CGC>TGC	p.R208C	PTGIS_uc010zyi.1_Missense_Mutation_p.R69C	NM_000961	NP_000952	Q16647	PTGIS_HUMAN	prostaglandin I2 synthase	208					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			skin(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	TCGAGCTGGCGAAAGGTGTGG	0.642													22	34					0	0	0.004656	0	0
NFATC2	4773	broad.mit.edu	37	20	50140318	50140318	+	Silent	SNP	G	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:50140318G>C	uc002xwd.2	-	2	682	c.462C>G	c.(460-462)CCC>CCG	p.P154P	NFATC2_uc002xwc.2_Silent_p.P154P|NFATC2_uc010zyv.1_Intron|NFATC2_uc010zyw.1_Intron|NFATC2_uc010zyx.1_Silent_p.P134P|NFATC2_uc010zyy.1_Intron|NFATC2_uc010zyz.1_Intron|NFATC2_uc002xwe.2_Silent_p.P134P	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells,	154	Trans-activation domain A (TAD-A).				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	Hepatocellular(150;0.248)					AGCCGGGCACGGGCAGGGTGA	0.697													13	5					0	0	0.001368	0	0
ZFP64	55734	broad.mit.edu	37	20	50769309	50769310	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:50769309_50769310GG>AA	uc002xwl.2	-	6	1770_1771	c.1421_1422CC>TT	c.(1420-1422)CCC>CTT	p.P474L	ZFP64_uc002xwk.2_Intron|ZFP64_uc002xwm.2_Missense_Mutation_p.P472L|ZFP64_uc002xwn.2_Missense_Mutation_p.P420L	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN	zinc finger protein 64 isoform a	474					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						CCACAGTGAGGGGCGTGGCGGG	0.604													28	54					0	0	0.004672	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872404	51872404	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:51872404C>T	uc002xwo.2	+	2	3363	c.2407C>T	c.(2407-2409)CCC>TCC	p.P803S		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	803					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6			STAD - Stomach adenocarcinoma(23;0.1)			CAAAGTCCTCCCCAAAGCCAC	0.562													26	64					0	0	0.004656	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872600	51872600	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:51872600C>T	uc002xwo.2	+	2	3559	c.2603C>T	c.(2602-2604)TCA>TTA	p.S868L		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	868	Homeobox; atypical.				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6			STAD - Stomach adenocarcinoma(23;0.1)			TTCCAGACATCAGAGGGCAAA	0.498													24	56					0	0	0.006320	0	0
CTCFL	140690	broad.mit.edu	37	20	56078656	56078656	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:56078656A>T	uc010gix.1	-	9	2338	c.1676T>A	c.(1675-1677)ATT>AAT	p.I559N	CTCFL_uc010giw.1_Missense_Mutation_p.I559N|CTCFL_uc002xym.2_Missense_Mutation_p.I559N|CTCFL_uc010giz.1_Missense_Mutation_p.I147N|CTCFL_uc010giy.1_Missense_Mutation_p.I229N|CTCFL_uc010gja.1_Missense_Mutation_p.I509N|CTCFL_uc010gjb.1_Missense_Mutation_p.I559N|CTCFL_uc010gjc.1_Missense_Mutation_p.I559N|CTCFL_uc010gjd.1_Missense_Mutation_p.I559N|CTCFL_uc010gje.2_Missense_Mutation_p.I559N|CTCFL_uc010gjf.2_Missense_Mutation_p.I354N|CTCFL_uc010gjg.2_Missense_Mutation_p.I291N|CTCFL_uc010giu.2_RNA|CTCFL_uc010giv.2_RNA	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor-like protein	559	C2H2-type 11; atypical.				cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|skin(1)	4	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			GTGCAGGTTAATCTGTCGGAG	0.338													25	36					0	0	0.003330	0	0
ZBP1	81030	broad.mit.edu	37	20	56191424	56191424	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:56191424G>A	uc002xyo.2	-	2	416	c.135C>T	c.(133-135)CTC>CTT	p.L45L	ZBP1_uc010gjm.2_Silent_p.L45L|ZBP1_uc002xyp.2_Intron|ZBP1_uc010zzn.1_Silent_p.L45L	NM_030776	NP_110403	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1 isoform a	45	DRADA 1.					cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding			ovary(2)	2	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			GGACTTGGTTGAGCTCCCTCT	0.572													31	86					0	0	0.004289	0	0
NPEPL1	79716	broad.mit.edu	37	20	57287539	57287539	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:57287539T>C	uc010zzs.1	+	8	1000	c.905T>C	c.(904-906)TTC>TCC	p.F302S	NPEPL1_uc010zzr.1_Missense_Mutation_p.F254S|NPEPL1_uc002xzn.2_RNA|NPEPL1_uc010gjo.1_Missense_Mutation_p.F274S|NPEPL1_uc002xzp.2_Missense_Mutation_p.F190S	NM_024663	NP_078939	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	302					proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity				0	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			CTCCAGGGTTTCAAAGACAAC	0.582													29	50					0	0	0.008361	0	0
MIR296	407022	broad.mit.edu	37	20	57392737	57392737	+	RNA	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:57392737C>T	hsa-mir-296|MI0000747	-			c.13C>T			uc002xzr.1_RNA																	0						GGGGGGCCCTCTGGAAGGGTC	0.587													15	18					0	0	0.004007	0	0
ZNF831	128611	broad.mit.edu	37	20	57829592	57829592	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:57829592A>G	uc002yan.2	+	5	4828	c.4828A>G	c.(4828-4830)AGT>GGT	p.S1610G		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1610						intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					CTCTTTAGGAAGTGACGGTAG	0.498													43	55					0	0	0.003610	0	0
C20orf200	253868	broad.mit.edu	37	20	61143663	61143663	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:61143663C>T	uc002ycz.1	-	3	676	c.185G>A	c.(184-186)GGA>GAA	p.G62E	C20orf200_uc002ycy.2_RNA	NM_152757	NP_689970			hypothetical protein LOC253868												0	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;7.17e-06)			ATCAGATGGTCCTTCCCGGCA	0.672													15	42					0	0	0.004990	0	0
COL20A1	57642	broad.mit.edu	37	20	61944589	61944589	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:61944589C>T	uc011aau.1	+	17	2297	c.2197C>T	c.(2197-2199)CGC>TGC	p.R733C	COL20A1_uc011aav.1_Missense_Mutation_p.R554C	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	733	Fibronectin type-III 5.				cell adhesion	collagen|extracellular space	structural molecule activity			central_nervous_system(1)	1	all_cancers(38;1.39e-10)					TGTGTCCCTCCGCTATACCCC	0.677													9	17					0	0	0.001855	0	0
PRIC285	85441	broad.mit.edu	37	20	62203672	62203672	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:62203672G>A	uc002yfm.2	-	2	959	c.67C>T	c.(67-69)CCT>TCT	p.P23S	PRIC285_uc002yfn.2_Missense_Mutation_p.P23S	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	PPAR-alpha interacting complex protein 285	23					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)			TCGCCATCAGGGGCAGGGGGT	0.716													9	8					0	0	0.006214	0	0
ZGPAT	84619	broad.mit.edu	37	20	62339959	62339959	+	Silent	SNP	C	T	T	rs148155917		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:62339959C>T	uc002ygk.2	+	2	205	c.27C>T	c.(25-27)GCC>GCT	p.A9A	ARFRP1_uc002yga.2_5'Flank|ARFRP1_uc002ygc.2_5'Flank|ARFRP1_uc002ygh.3_5'Flank|ARFRP1_uc011abf.1_5'Flank|ARFRP1_uc011abg.1_5'Flank|ARFRP1_uc002yge.2_5'Flank|ARFRP1_uc002ygd.2_5'Flank|ARFRP1_uc002ygf.2_5'Flank|ARFRP1_uc002ygg.2_5'Flank|ARFRP1_uc011abh.1_5'Flank|ZGPAT_uc002ygi.2_Silent_p.A9A|ZGPAT_uc002ygj.2_Silent_p.A9A|ZGPAT_uc010gkk.1_Intron|ZGPAT_uc010gkl.1_Silent_p.A9A|ZGPAT_uc002ygm.2_Silent_p.A9A|ZGPAT_uc002ygn.3_RNA	NM_032527	NP_115916	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	9					negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					TGGAGTCGGCCTTGCAGACCT	0.687													30	27					0	0	0.002445	0	0
PRPF6	24148	broad.mit.edu	37	20	62626388	62626388	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:62626388C>T	uc002yho.2	+	5	726	c.558C>T	c.(556-558)TTC>TTT	p.F186F	PRPF6_uc002yhp.2_Silent_p.F186F	NM_012469	NP_036601	O94906	PRP6_HUMAN	PRP6 pre-mRNA processing factor 6 homolog	186					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			ovary(2)	2	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					CTGACAGTTTCTTTGCCAAAC	0.512													34	42					0	0	0.004878	0	0
OPRL1	4987	broad.mit.edu	37	20	62729718	62729718	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:62729718C>T	uc002yic.2	+	5	1081	c.679C>T	c.(679-681)CCC>TCC	p.P227S	OPRL1_uc002yid.2_Missense_Mutation_p.P227S|OPRL1_uc002yif.3_Missense_Mutation_p.P222S	NM_182647	NP_872588	P41146	OPRX_HUMAN	opiate receptor-like 1	227	Helical; Name=5; (Potential).				elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity			central_nervous_system(1)|skin(1)	2	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					CTTCATCGTCCCCGTGCTCGT	0.622													38	55					0	0	0.008740	0	0
TPTE	7179	broad.mit.edu	37	21	10920091	10920091	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:10920091G>A	uc002yip.1	-	19	1531	c.1163C>T	c.(1162-1164)CCT>CTT	p.P388L	TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.P370L|TPTE_uc002yir.1_Missense_Mutation_p.P350L|TPTE_uc010gkv.1_Missense_Mutation_p.P250L	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	388	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TACCTGAGAAGGAGTTTTTAC	0.378													10	71					0	0	0.008291	0	0
TPTE	7179	broad.mit.edu	37	21	10951345	10951345	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:10951345G>A	uc002yip.1	-	10	735	c.367C>T	c.(367-369)CCT>TCT	p.P123S	TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.P105S|TPTE_uc002yir.1_Missense_Mutation_p.P85S|TPTE_uc010gkv.1_5'UTR	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	123					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TACTCCAAAGGAATATAAAGT	0.318													21	119					0	0	0.001523	0	0
C21orf99	149992	broad.mit.edu	37	21	14424137	14424137	+	RNA	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:14424137C>T	uc002yiy.3	+	5		c.2952C>T			C21orf99_uc002yja.3_RNA					Homo sapiens C21orf99 protein (C21orf99) mRNA, complete cds.												0						TGAAGGAACACCTGACGAGGC	0.448													4	23					0	0	0.000248	0	0
RBM11	54033	broad.mit.edu	37	21	15599409	15599409	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:15599409C>T	uc002yjo.3	+	5	683	c.641C>T	c.(640-642)TCC>TTC	p.S214F	RBM11_uc002yjn.3_Missense_Mutation_p.S100F|RBM11_uc002yjp.3_Missense_Mutation_p.S100F	NM_144770	NP_658983	P57052	RBM11_HUMAN	RNA binding motif protein 11	214							nucleotide binding|RNA binding				0				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		TCCGTGTCTTCCTCACTGAAT	0.453													95	155					0	0	0.003610	0	0
USP25	29761	broad.mit.edu	37	21	17250673	17250673	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:17250673C>T	uc002yjy.1	+	24	3264	c.3047C>T	c.(3046-3048)TCT>TTT	p.S1016F	USP25_uc011aby.1_Missense_Mutation_p.S1086F|USP25_uc002yjz.1_Missense_Mutation_p.S1048F|USP25_uc010gla.1_Missense_Mutation_p.S411F	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	1016					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(3)|liver(2)	5				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		CTTGATTGTTCTATGGAGATT	0.388													23	28					0	0	0.003954	0	0
NCAM2	4685	broad.mit.edu	37	21	22838998	22838998	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:22838998G>A	uc002yld.1	+	13	1975	c.1726G>A	c.(1726-1728)GGA>AGA	p.G576R	NCAM2_uc011acb.1_Missense_Mutation_p.G434R	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	576	Fibronectin type-III 1.|Extracellular (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)		AAATGGAAAGGGACAAGGAGA	0.308													10	14					0	0	0.008291	0	0
GRIK1	2897	broad.mit.edu	37	21	30953850	30953850	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:30953850C>T	uc002yno.1	-	13	2271	c.1807G>A	c.(1807-1809)GAG>AAG	p.E603K	GRIK1_uc002ynn.2_Missense_Mutation_p.E588K|GRIK1_uc011acs.1_Missense_Mutation_p.E603K|GRIK1_uc011act.1_Missense_Mutation_p.E464K|GRIK1_uc010glq.1_Missense_Mutation_p.E446K	NM_000830	NP_000821	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	603	Cytoplasmic (Potential).				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			large_intestine(1)|ovary(1)|skin(1)	3					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	TTATACCACTCGTAGGGTGTA	0.433													22	21					0	0	0.003330	0	0
CLDN8	9073	broad.mit.edu	37	21	31588124	31588124	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:31588124G>A	uc002ynu.1	-	1	195	c.120C>T	c.(118-120)ATC>ATT	p.I40I		NM_199328	NP_955360	P56748	CLD8_HUMAN	claudin 8	40	Extracellular (Potential).				calcium-independent cell-cell adhesion	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity				0						CAAAAACCACGATGTTGTTTT	0.488													12	76					0	0	0.002450	0	0
KRTAP26-1	388818	broad.mit.edu	37	21	31691929	31691929	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:31691929G>A	uc002ynw.2	-	1	679	c.425C>T	c.(424-426)GCC>GTC	p.A142V		NM_203405	NP_981950	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	142						intermediate filament				ovary(1)	1						GGGGCGATAGGCATTGGGCAC	0.552													10	126					0	0	0.000978	0	0
KRTAP27-1	643812	broad.mit.edu	37	21	31709695	31709695	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:31709695T>G	uc002ynx.1	-	1	318	c.292A>C	c.(292-294)ACA>CCA	p.T98P		NM_001077711	NP_001071179	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	98						intermediate filament				ovary(2)	2						TGGCACGCTGTCCTTTCGCAG	0.498													41	60					0	0	0.002222	0	0
KRTAP19-4	337971	broad.mit.edu	37	21	31869219	31869219	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:31869219C>T	uc011acz.1	-	1	210	c.210G>A	c.(208-210)ACG>ACA	p.T70T		NM_181610	NP_853641	Q3LI73	KR194_HUMAN	keratin associated protein 19-4	70						intermediate filament				ovary(2)	2						CCTCTGATATCGTGTCCTCAG	0.408													40	69					0	0	0.006230	0	0
SYNJ1	8867	broad.mit.edu	37	21	34003525	34003525	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:34003525G>A	uc002yqh.2	-	32	4619	c.4619C>T	c.(4618-4620)TCA>TTA	p.S1540L	SYNJ1_uc011ads.1_3'UTR|SYNJ1_uc002yqf.2_3'UTR|SYNJ1_uc002yqg.2_Missense_Mutation_p.S1454L|SYNJ1_uc002yqi.2_3'UTR|SYNJ1_uc002yqe.3_Missense_Mutation_p.S126L	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	synaptojanin 1 isoform a	1501	Pro-rich.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			ovary(4)|skin(1)	5						CAGTAAGTCTGAACAAGCTGA	0.438													9	84					0	0	0.006214	0	0
DNAJC28	54943	broad.mit.edu	37	21	34860693	34860693	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:34860693T>G	uc002yrv.2	-	2	1457	c.1008A>C	c.(1006-1008)AGA>AGC	p.R336S	DNAJC28_uc002yrw.2_Missense_Mutation_p.R336S	NM_017833	NP_060303	Q9NX36	DJC28_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 28	336	Potential.			LIVPILTRQKVHFDAQKEIVRAQKIYETLIKTKEVTDRNPN NLDQGEGEKTPEIKKGFLNWMNLWKFIKIRSF -> CSHPD QAKSPF (in Ref. 2; BAA91185).			heat shock protein binding				0						TTTTCTGGGCTCTGACAATTT	0.343													23	36					0	0	0.003330	0	0
DSCAM	1826	broad.mit.edu	37	21	41668096	41668096	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:41668096G>A	uc002yyq.1	-	10	2520	c.2068C>T	c.(2068-2070)CCC>TCC	p.P690S	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	690	Extracellular (Potential).|Ig-like C2-type 8.				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)				ACAAACTTGGGAGGAACTGAA	0.413													6	42					0	0	0.001984	0	0
DSCAM	1826	broad.mit.edu	37	21	42080546	42080546	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:42080546C>T	uc002yyq.1	-	2	647	c.195G>A	c.(193-195)GAG>GAA	p.E65E	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	65	Extracellular (Potential).|Ig-like C2-type 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CATCGTAGATCTCCTCGCCCG	0.572													24	44					0	0	0.002780	0	0
TMPRSS3	64699	broad.mit.edu	37	21	43800270	43800270	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:43800270C>T	uc002zbb.2	-	10	1205	c.1004G>A	c.(1003-1005)GGA>GAA	p.G335E	TMPRSS3_uc002zay.2_Missense_Mutation_p.G93E|TMPRSS3_uc002zaz.2_Missense_Mutation_p.G208E|TMPRSS3_uc002zba.2_Missense_Mutation_p.G208E|TMPRSS3_uc002zbc.2_Missense_Mutation_p.G335E	NM_024022	NP_076927	P57727	TMPS3_HUMAN	transmembrane protease, serine 3 isoform 1	335	Peptidase S1.|Extracellular (Potential).				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			ovary(2)|breast(1)	3						GCACACTTTTCCATCGGGGAA	0.552													9	19					0	0	0.008291	0	0
RSPH1	89765	broad.mit.edu	37	21	43896032	43896032	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:43896032C>T	uc002zbg.2	-	8	958	c.853G>A	c.(853-855)GAG>AAG	p.E285K		NM_080860	NP_543136	Q8WYR4	RSPH1_HUMAN	testis-specific gene A2	285					meiosis	cytosol|nucleus				ovary(1)	1						TAGCGGAACTCCTCCTGGTCA	0.622													5	37					0	0	0.000602	0	0
WDR4	10785	broad.mit.edu	37	21	44283681	44283681	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:44283681G>A	uc002zci.2	-	4	395	c.322C>T	c.(322-324)CTG>TTG	p.L108L	WDR4_uc002zck.1_Silent_p.L108L|WDR4_uc002zcl.1_5'UTR|WDR4_uc010gpg.1_Silent_p.L108L|WDR4_uc011aew.1_5'UTR|WDR4_uc010gph.1_5'UTR	NM_033661	NP_387510	P57081	WDR4_HUMAN	WD repeat domain 4 protein	108					tRNA modification	cytoplasm|nucleoplasm	protein binding			ovary(1)	1				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)		ATGAAAGTCAGGGCTGTACAC	0.602													13	31					0	0	0.003163	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45483519	45483519	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:45483519G>A	uc002zea.2	+	7	1060	c.891G>A	c.(889-891)CAG>CAA	p.Q297Q	TRAPPC10_uc010gpo.2_Silent_p.Q8Q	NM_003274	NP_003265	P48553	TPC10_HUMAN	trafficking protein particle complex 10	297					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			ovary(1)|skin(1)	2						AATCGATCCAGAGGCGAGAAG	0.567													5	53					0	0	0.000602	0	0
PFKL	5211	broad.mit.edu	37	21	45733006	45733006	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:45733006C>T	uc002zel.2	+	5	632	c.573C>T	c.(571-573)GCC>GCT	p.A191A	PFKL_uc002zek.2_Silent_p.A238A|PFKL_uc011afd.1_Silent_p.A238A	NM_002626	NP_002617	P17858	K6PL_HUMAN	liver phosphofructokinase	191					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding				0				Colorectal(79;0.0811)		TCATCGATGCCATCACCACCA	0.677													24	22					0	0	0.003954	0	0
KRTAP10-4	386672	broad.mit.edu	37	21	45994564	45994564	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:45994564C>T	uc002zfk.1	+	1	959	c.929C>T	c.(928-930)TCC>TTC	p.S310F	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198687	NP_941960	P60372	KR104_HUMAN	keratin associated protein 10-4	310	36 X 5 AA repeats of C-C-X(3).|28.					keratin filament					0						TGCTGCACCTCCTCCCAAAGC	0.617													32	41					0	0	0.002096	0	0
KRTAP10-9	386676	broad.mit.edu	37	21	46047644	46047644	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:46047644G>C	uc002zfp.3	+	1	605	c.556G>C	c.(556-558)GTC>CTC	p.V186L	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198690	NP_941963	P60411	KR109_HUMAN	keratin associated protein 10-9	186	17.|25 X 5 AA repeats of C-C-X(3).					keratin filament					0						CTGTGTGCCTGTCTGCTGTAA	0.597													20	158					0	0	0.001523	0	0
COL6A1	1291	broad.mit.edu	37	21	47407549	47407549	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:47407549G>A	uc002zhu.1	+	8	887	c.785G>A	c.(784-786)CGG>CAG	p.R262Q		NM_001848	NP_001839	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1 precursor	262	Cell attachment site.|Triple-helical region.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			ovary(1)	1	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	CCGGGGCTCCGGGGCGACCCC	0.692													23	39					0	0	0.005443	0	0
PCNT	5116	broad.mit.edu	37	21	47744193	47744193	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:47744193G>A	uc002zji.3	+	1	158	c.51G>A	c.(49-51)ACG>ACA	p.T17T	PCNT_uc002zjj.2_5'Flank|C21orf58_uc011afx.1_5'Flank|C21orf58_uc002zjf.2_5'Flank|C21orf58_uc010gqj.1_5'Flank|C21orf58_uc002zjg.1_5'Flank	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	17					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					CCGGGAGGACGAAGGTAAACA	0.667													6	9					0	0	0.001984	0	0
POTEH	23784	broad.mit.edu	37	22	16287502	16287502	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:16287502C>T	uc010gqp.2	-	1	436	c.384G>A	c.(382-384)ATG>ATA	p.M128I	POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_Intron	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	ANKRD26-like family C, member 3	128										skin(1)	1						TGAGTGTCTTCATAGCAGAGT	0.617													32	100					0	0	0.002522	0	0
OR11H1	81061	broad.mit.edu	37	22	16449062	16449062	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:16449062C>T	uc011agd.1	-	1	743	c.743G>A	c.(742-744)GGG>GAG	p.G248E		NM_001005239	NP_001005239	Q8NG94	O11H1_HUMAN	olfactory receptor, family 11, subfamily H,	248	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)		CTTATGTCTCCCAGTGCTTGA	0.433													63	139					0	0	0.003610	0	0
IL17RA	23765	broad.mit.edu	37	22	17590263	17590263	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:17590263C>T	uc002zly.2	+	13	2287	c.2154C>T	c.(2152-2154)TTC>TTT	p.F718F	IL17RA_uc010gqt.2_Silent_p.F666F	NM_014339	NP_055154	Q96F46	I17RA_HUMAN	interleukin 17A receptor precursor	718	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)		GCGTCCTCTTCCTCCCCGTGG	0.711													6	12					0	0	0.003080	0	0
CECR6	27439	broad.mit.edu	37	22	17600967	17600968	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:17600967_17600968CC>TT	uc002zmb.2	-	1	1246_1247	c.1050_1051GG>AA	c.(1048-1053)ACGGGC>ACAAGC	p.G351S	CECR6_uc002zma.2_5'UTR|uc002zmc.2_5'Flank	NM_031890	NP_114096	Q9BXQ6	CECR6_HUMAN	cat eye syndrome chromosome region, candidate 6	351											0		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		AGACGGAAGCCCGTGGTGCCGA	0.668													14	25					0	0	0.004672	0	0
DGCR6	8214	broad.mit.edu	37	22	18899146	18899146	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:18899146C>T	uc002zoh.3	+	5	759	c.607C>T	c.(607-609)CCC>TCC	p.P203S	DGCR6_uc002zog.2_RNA|DGCR6_uc002zoi.3_RNA	NM_005675	NP_005666	Q14129	DGCR6_HUMAN	DiGeorge syndrome critical region protein 6	203					cell adhesion|organ morphogenesis	nucleus|proteinaceous extracellular matrix				upper_aerodigestive_tract(1)|central_nervous_system(1)	2						GCTAGGAGGTCCCTGGCAGTT	0.607													4	13					0	0	0.000248	0	0
SEPT5	5413	broad.mit.edu	37	22	19707911	19707911	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:19707911A>G	uc002zpv.1	+	6	556	c.431A>G	c.(430-432)AAC>AGC	p.N144S	SEPT5_uc002zpw.1_RNA|SEPT5_uc002zpx.1_RNA|SEPT5_uc002zpy.1_5'Flank	NM_002688	NP_002679	Q99719	SEPT5_HUMAN	septin 5	144					cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity			lung(1)	1	Colorectal(54;0.0993)					AGCGGCCTCAACCGAAAGAAC	0.602													13	30					0	0	0.001368	0	0
VPREB1	7441	broad.mit.edu	37	22	22599239	22599239	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:22599239C>T	uc002zvx.1	+	1	40	c.14C>T	c.(13-15)CCT>CTT	p.P5L	LOC96610_uc011aim.1_Intron	NM_007128	NP_009059	P12018	VPREB_HUMAN	immunoglobulin iota chain precursor	5					immune response	extracellular region	antigen binding|protein binding				0	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)		READ - Rectum adenocarcinoma(21;0.145)		TCCTGGGCTCCTGTCCTGCTC	0.637													14	31					0	0	0.004990	0	0
MYO18B	84700	broad.mit.edu	37	22	26228958	26228958	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:26228958C>T	uc003abz.1	+	16	3304	c.3054C>T	c.(3052-3054)CCC>CCT	p.P1018P	MYO18B_uc003aca.1_Silent_p.P899P|MYO18B_uc010guy.1_Silent_p.P899P|MYO18B_uc010guz.1_Silent_p.P899P|MYO18B_uc011aka.1_Silent_p.P172P|MYO18B_uc011akb.1_Silent_p.P531P	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1018	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						ATCAAAATCCCTCTCAGGTAA	0.483													26	42					0	0	0.005443	0	0
SEZ6L	23544	broad.mit.edu	37	22	26688398	26688398	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:26688398C>T	uc003acb.2	+	2	277	c.121C>T	c.(121-123)CCT>TCT	p.P41S	SEZ6L_uc003acc.2_Missense_Mutation_p.P41S|SEZ6L_uc011akc.1_Missense_Mutation_p.P41S|SEZ6L_uc003acd.2_Missense_Mutation_p.P41S|SEZ6L_uc011akd.1_Missense_Mutation_p.P41S|SEZ6L_uc003ace.2_Missense_Mutation_p.P41S|SEZ6L_uc003acf.1_5'UTR|SEZ6L_uc010gvc.1_5'UTR	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	41	Extracellular (Potential).					endoplasmic reticulum membrane|integral to membrane				ovary(4)|central_nervous_system(1)|pancreas(1)	6						AGATGCTAGCCCTTTGGGTCC	0.567													4	11					0	0	0.000248	0	0
MTMR3	8897	broad.mit.edu	37	22	30418657	30418657	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:30418657C>T	uc003agv.3	+	19	3724	c.3396C>T	c.(3394-3396)TTC>TTT	p.F1132F	MTMR3_uc003agu.3_Silent_p.F1095F|MTMR3_uc003agw.3_Silent_p.F1095F	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	myotubularin-related protein 3 isoform c	1132	FYVE-type.				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|ovary(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			ACAGTGCCTTCTGGCTTGCCA	0.612													7	20					0	0	0.004482	0	0
SF3A1	10291	broad.mit.edu	37	22	30741170	30741170	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:30741170G>A	uc003ahl.2	-	4	535	c.403C>T	c.(403-405)CAA>TAA	p.Q135*		NM_005877	NP_005868	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa isoform 1	135					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding			ovary(3)|large_intestine(1)|pancreas(1)	5						TGGATTACTTGGGCTTGGACC	0.483													29	104					0	0	0.003271	0	0
MORC2	22880	broad.mit.edu	37	22	31328619	31328619	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:31328619G>A	uc003aje.1	-	24	3838	c.2474C>T	c.(2473-2475)TCC>TTC	p.S825F		NM_014941	NP_055756	Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	887							ATP binding|zinc ion binding			ovary(1)|pancreas(1)	2						TTCGGAAGTGGAGGGCTCTGC	0.607													20	26					0	0	0.001882	0	0
LIMK2	3985	broad.mit.edu	37	22	31658189	31658189	+	Silent	SNP	C	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:31658189C>A	uc003akh.2	+	6	766	c.621C>A	c.(619-621)ATC>ATA	p.I207I	LIMK2_uc003akg.2_Silent_p.I124I|LIMK2_uc003aki.2_Intron|LIMK2_uc003akj.2_Silent_p.I186I|LIMK2_uc003akk.2_Silent_p.I186I|LIMK2_uc011aln.1_Silent_p.I124I	NM_005569	NP_005560	P53671	LIMK2_HUMAN	LIM domain kinase 2 isoform 2a	207	PDZ.					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			ovary(2)	2						TCCTGGAGATCAATGGGACCC	0.552													15	60					3.32936e-07	4.32291e-07	0.006122	1	0
SLC5A1	6523	broad.mit.edu	37	22	32445970	32445970	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:32445970T>G	uc003amc.2	+	2	408	c.176T>G	c.(175-177)TTC>TGC	p.F59C		NM_000343	NP_000334	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose	59	Cytoplasmic (Potential).				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			skin(1)	1						GGAGGCTTCTTCCTGGCAGGC	0.448													79	160					0	0	0.003610	0	0
SLC5A1	6523	broad.mit.edu	37	22	32498076	32498076	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:32498076A>G	uc003amc.2	+	13	1749	c.1517A>G	c.(1516-1518)TAT>TGT	p.Y506C	SLC5A1_uc011alz.1_Missense_Mutation_p.Y379C	NM_000343	NP_000334	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose	506	Extracellular (Potential).				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			skin(1)	1						GAGTTTGCTTATGGAACCGGG	0.478													20	36					0	0	0.008871	0	0
APOL3	80833	broad.mit.edu	37	22	36538010	36538010	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:36538010C>T	uc003aot.2	-	3	485	c.447G>A	c.(445-447)AGG>AGA	p.R149R	APOL3_uc003aoq.2_Silent_p.R78R|APOL3_uc003aor.2_Silent_p.R78R|APOL3_uc003aos.2_Silent_p.R78R|APOL3_uc003aou.2_5'UTR|APOL3_uc003aov.2_5'UTR	NM_145640	NP_663615	O95236	APOL3_HUMAN	apolipoprotein L3 isoform 1	149					inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity				0						AAAACCATTCCCTAAACTGCT	0.453													28	56					0	0	0.006320	0	0
MYH9	4627	broad.mit.edu	37	22	36700082	36700082	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:36700082G>A	uc003apg.2	-	19	2580	c.2349C>T	c.(2347-2349)ATC>ATT	p.I783I	MYH9_uc003aph.1_Silent_p.I647I	NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	783	IQ.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						GGAACCCTATGATGACGTCGG	0.617			T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				6	32					0	0	0.003080	0	0
CSF2RB	1439	broad.mit.edu	37	22	37328826	37328826	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:37328826C>T	uc003aqa.3	+	9	1249	c.1032C>T	c.(1030-1032)TCC>TCT	p.S344S	CSF2RB_uc003aqc.3_Silent_p.S350S	NM_000395	NP_000386	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta	344	Extracellular (Potential).|Fibronectin type-III 2.				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			skin(2)|pancreas(1)	3					Sargramostim(DB00020)	CCCCTCCATCCCTCAACGTGA	0.527													10	22					0	0	0.008291	0	0
CSF2RB	1439	broad.mit.edu	37	22	37334022	37334022	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:37334022G>A	uc003aqa.3	+	14	2389	c.2172G>A	c.(2170-2172)GGG>GGA	p.G724G	CSF2RB_uc003aqc.3_Silent_p.G730G	NM_000395	NP_000386	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta	724	Cytoplasmic (Potential).				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			skin(2)|pancreas(1)	3					Sargramostim(DB00020)	CAAACTCAGGGGCCTCGTCTG	0.632													26	90					0	0	0.008361	0	0
CYTH4	27128	broad.mit.edu	37	22	37699361	37699361	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:37699361G>A	uc003arf.2	+	8	730	c.614G>A	c.(613-615)CGG>CAG	p.R205Q	CYTH4_uc003are.2_Missense_Mutation_p.R205Q|CYTH4_uc011amw.1_Missense_Mutation_p.R148Q|CYTH4_uc010gxe.2_Intron	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN	cytohesin 4	205	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			ovary(2)	2						CCCAACGTCCGGGACAGGCCG	0.612													18	38					0	0	0.007413	0	0
CYTH4	27128	broad.mit.edu	37	22	37708142	37708142	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:37708142G>A	uc003arf.2	+	12	1155	c.1039G>A	c.(1039-1041)GAG>AAG	p.E347K	CYTH4_uc011amw.1_Missense_Mutation_p.E290K|CYTH4_uc010gxe.2_Intron	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN	cytohesin 4	347	PH.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			ovary(2)	2						CAGGGTGGTGGAGGGCAAGCA	0.632													12	28					0	0	0.000978	0	0
CARD10	29775	broad.mit.edu	37	22	37906369	37906369	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:37906369C>T	uc003asx.1	-	4	762	c.759G>A	c.(757-759)AGG>AGA	p.R253R	CARD10_uc003ast.1_RNA|CARD10_uc003asw.1_5'Flank|CARD10_uc003asy.1_Silent_p.R253R	NM_014550	NP_055365	Q9BWT7	CAR10_HUMAN	caspase recruitment domain protein 10	253	Potential.				activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			upper_aerodigestive_tract(1)|lung(1)|breast(1)|ovary(1)|prostate(1)|kidney(1)	6	Melanoma(58;0.0574)					GGCCCCTGGCCCTTCGAAGCA	0.507													16	16					0	0	0.004990	0	0
TRIOBP	11078	broad.mit.edu	37	22	38120219	38120219	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:38120219C>T	uc003atr.2	+	7	1927	c.1656C>T	c.(1654-1656)TCC>TCT	p.S552S	TRIOBP_uc003atu.2_Silent_p.S380S|TRIOBP_uc003atq.1_Silent_p.S552S|TRIOBP_uc003ats.1_Silent_p.S380S	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	552					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)	1	Melanoma(58;0.0574)					CCACAACATCCTGTGCCCAGC	0.592													10	107					0	0	0.006214	0	0
GCAT	23464	broad.mit.edu	37	22	38212609	38212609	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:38212609C>T	uc003atz.2	+	9	1164	c.1144C>T	c.(1144-1146)CCC>TCC	p.P382S	GCAT_uc003aua.1_Missense_Mutation_p.P408S	NM_014291	NP_055106	O75600	KBL_HUMAN	glycine C-acetyltransferase precursor	382					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups				0	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CCCCGTGGTCCCCAAGGGCAA	0.607													16	46					0	0	0.004007	0	0
SOX10	6663	broad.mit.edu	37	22	38373993	38373993	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:38373993C>T	uc003aun.1	-	3	856	c.578G>A	c.(577-579)GGG>GAG	p.G193E	POLR2F_uc003aum.2_Intron|SOX10_uc003auo.1_Missense_Mutation_p.G193E	NM_006941	NP_008872	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	193						cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity				0	Melanoma(58;0.045)					CTCGGCCTCCCCACCGGGGCA	0.682													4	19					0	0	0.000248	0	0
CACNA1I	8911	broad.mit.edu	37	22	40030692	40030692	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:40030692C>T	uc003ayc.2	+	5	703	c.703C>T	c.(703-705)CTG>TTG	p.L235L	CACNA1I_uc003ayd.2_Silent_p.L235L|CACNA1I_uc003aye.2_Silent_p.L150L|CACNA1I_uc003ayf.2_Silent_p.L150L	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	235	I.|Extracellular (Potential).				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(1)|central_nervous_system(1)	2	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GGCGGGCCTGCTGCGTAACCG	0.552													24	60					0	0	0.004656	0	0
CACNA1I	8911	broad.mit.edu	37	22	40056392	40056392	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:40056392C>T	uc003ayc.2	+	15	2648	c.2648C>T	c.(2647-2649)TCC>TTC	p.S883F	CACNA1I_uc003ayd.2_Missense_Mutation_p.S848F|CACNA1I_uc003aye.2_Missense_Mutation_p.S798F|CACNA1I_uc003ayf.2_Missense_Mutation_p.S763F	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	883	Cytoplasmic (Potential).				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(1)|central_nervous_system(1)	2	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CAGAGCTCATCCAACATAGAA	0.577													8	24					0	0	0.004482	0	0
ENTHD1	150350	broad.mit.edu	37	22	40139745	40139745	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:40139745G>A	uc003ayg.2	-	7	2014	c.1763C>T	c.(1762-1764)TCA>TTA	p.S588L		NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	588										ovary(2)|skin(1)	3	Melanoma(58;0.0749)					GCTTATTTGTGAACTATTCAG	0.413													29	61					0	0	0.006320	0	0
ENTHD1	150350	broad.mit.edu	37	22	40217006	40217006	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:40217006G>A	uc003ayg.2	-	5	1075	c.824C>T	c.(823-825)TCG>TTG	p.S275L		NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	275										ovary(2)|skin(1)	3	Melanoma(58;0.0749)					ACCTGCACCCGAAAGATTACA	0.383													21	20					0	0	0.003954	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41753189	41753189	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:41753189A>G	uc003azw.2	+	23	2906	c.2690A>G	c.(2689-2691)AAG>AGG	p.K897R	ZC3H7B_uc010gyl.1_Intron	NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	913	C3H1-type 4.				interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)	1						AGGCTCCAGAAGGGCAAAGCC	0.667													6	24					0	0	0.001168	0	0
MEI1	150365	broad.mit.edu	37	22	42172208	42172208	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:42172208C>T	uc003baz.1	+	21	2672	c.2647C>T	c.(2647-2649)CGA>TGA	p.R883*	WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|MEI1_uc011apd.1_RNA|MEI1_uc003bbb.1_Nonsense_Mutation_p.R269*|MEI1_uc003bbc.1_Nonsense_Mutation_p.R251*|MEI1_uc010gym.1_Nonsense_Mutation_p.R251*|MEI1_uc003bbd.1_Nonsense_Mutation_p.R126*|MEI1_uc010gyn.1_RNA|MEI1_uc003bbe.1_RNA	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	meiosis defective 1	883							binding			central_nervous_system(1)|skin(1)	2						CGGTCTTATCCGAGGCCACTT	0.562													20	53					0	0	0.001523	0	0
SCUBE1	80274	broad.mit.edu	37	22	43735192	43735192	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:43735192G>A	uc003bdt.1	-	2	226	c.138C>T	c.(136-138)ATC>ATT	p.I46I	SCUBE1_uc003bdu.1_Silent_p.I46I	NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	46	EGF-like 1; calcium-binding (Potential).				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5		all_neural(38;0.0414)|Ovarian(80;0.07)				AGATGGCATCGATGTGGCAGT	0.597													14	33					0	0	0.002450	0	0
FBLN1	2192	broad.mit.edu	37	22	45996225	45996225	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:45996225C>T	uc003bgj.1	+	17	2158	c.2011C>T	c.(2011-2013)CAT>TAT	p.H671Y	FBLN1_uc003bgk.1_RNA	NM_006486	NP_006477	P23142	FBLN1_HUMAN	fibulin 1 isoform D	671					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(1)|central_nervous_system(1)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GGGCCCATTTCATGCCGTCCT	0.572													80	167					0	0	0.003610	0	0
PPARA	5465	broad.mit.edu	37	22	46611088	46611088	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:46611088C>T	uc003bgw.1	+	5	493	c.227C>T	c.(226-228)TCG>TTG	p.S76L	PPARA_uc003bgx.1_Missense_Mutation_p.S76L|PPARA_uc010hab.1_Missense_Mutation_p.S76L|PPARA_uc003bha.2_Missense_Mutation_p.S76L|PPARA_uc003bhb.1_Missense_Mutation_p.S76L|PPARA_uc010hac.1_5'UTR	NM_005036	NP_005027	Q07869	PPARA_HUMAN	peroxisome proliferative activated receptor,	76					fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	TCACCAGCTTCGAGCCCCTCC	0.547													12	23					0	0	0.001855	0	0
PKDREJ	10343	broad.mit.edu	37	22	46653792	46653792	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:46653792C>T	uc003bhh.2	-	1	5428	c.5428G>A	c.(5428-5430)GAA>AAA	p.E1810K		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	receptor for egg jelly-like protein precursor	1810	Extracellular (Potential).				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			breast(3)|ovary(2)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ACAAACTTTTCGGCAGGTAGA	0.398													58	189					0	0	0.003610	0	0
PKDREJ	10343	broad.mit.edu	37	22	46656462	46656462	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:46656462C>T	uc003bhh.2	-	1	2758	c.2758G>A	c.(2758-2760)GAT>AAT	p.D920N		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	receptor for egg jelly-like protein precursor	920	Extracellular (Potential).				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			breast(3)|ovary(2)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TTTTCCTGATCATTTAACCAA	0.438													62	96					0	0	0.003610	0	0
ALG12	79087	broad.mit.edu	37	22	50297903	50297903	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:50297903C>T	uc003biy.2	-	9	1437	c.1163_splice	c.e9-1	p.D388_splice		NM_024105	NP_077010	Q9BV10	ALG12_HUMAN	alpha-1,6-mannosyltransferase ALG12						dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane					0		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		AGAAGGACGTCTAGGAAAACC	0.647													13	34					0	0	0.001855	0	0
MOV10L1	54456	broad.mit.edu	37	22	50598148	50598148	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:50598148G>A	uc003bjj.2	+	24	3341	c.3258G>A	c.(3256-3258)ATG>ATA	p.M1086I	MOV10L1_uc003bjk.3_Missense_Mutation_p.M1086I|MOV10L1_uc011arp.1_Missense_Mutation_p.M1066I|MOV10L1_uc003bjl.2_Missense_Mutation_p.M213I	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	MOV10-like 1 isoform 1	1086					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			ovary(2)|skin(1)	3		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TTGATCTGATGGATATAAAGG	0.378													40	55					0	0	0.002222	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50658792	50658792	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:50658792G>A	uc003bkb.1	-	16	4508	c.3996C>T	c.(3994-3996)CCC>CCT	p.P1332P	TUBGCP6_uc003bka.1_Silent_p.P419P|TUBGCP6_uc010har.1_Silent_p.P1324P|TUBGCP6_uc010has.1_RNA	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1332					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			ovary(2)|central_nervous_system(2)	4		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		AGCCCGAGCTGGGGGAGGACA	0.667													8	23					0	0	0.004482	0	0
MAPK11	5600	broad.mit.edu	37	22	50706341	50706341	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:50706341C>T	uc003bkr.2	-	2	212	c.154G>A	c.(154-156)GTG>ATG	p.V52M	MAPK11_uc010hax.2_Translation_Start_Site|MAPK11_uc011ars.1_RNA|MAPK11_uc010hay.1_RNA|MAPK11_uc011art.1_Missense_Mutation_p.V52M|MAPK11_uc010haz.2_Translation_Start_Site	NM_002751	NP_002742	Q15759	MK11_HUMAN	mitogen-activated protein kinase 11	52	Protein kinase.				activation of MAPK activity|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			lung(1)|breast(1)	2		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;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AGCTTCTTCACCGCCACCTTC	0.662													3	9					0	0	0.000602	0	0
PLXNB2	23654	broad.mit.edu	37	22	50720694	50720694	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:50720694C>T	uc003bkv.3	-	19	3142	c.3036G>A	c.(3034-3036)CAG>CAA	p.Q1012Q	PLXNB2_uc003bkt.1_5'Flank|PLXNB2_uc003bku.1_5'UTR	NM_012401	NP_036533	O15031	PLXB2_HUMAN	plexin B2 precursor	1012	IPT/TIG 3.|Extracellular (Potential).				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			ovary(4)|central_nervous_system(1)|skin(1)	6		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;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TGGCAAACCTCTGGATCAGGC	0.682													18	29					0	0	0.001523	0	0
MIOX	55586	broad.mit.edu	37	22	50926416	50926416	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:50926416C>T	uc003bll.1	+	4	393	c.279C>T	c.(277-279)TTC>TTT	p.F93F	MIOX_uc003blm.1_Silent_p.F93F|MIOX_uc003bln.1_Silent_p.F93F	NM_017584	NP_060054	Q9UGB7	MIOX_HUMAN	myo-inositol oxygenase	93					inositol catabolic process	cytoplasm|inclusion body	aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity				0		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ACGTAGATTTCCCCAACTCCT	0.617													17	27					0	0	0.007413	0	0
LRRN1	57633	broad.mit.edu	37	3	3887440	3887440	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:3887440C>T	uc003bpt.3	+	2	1876	c.1115C>T	c.(1114-1116)CCC>CTC	p.P372L	SUMF1_uc003bps.1_Intron	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1 precursor	372	LRRCT.|Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		CATAGCAATCCCCTCAGGTGT	0.488													26	47					0	0	0.008361	0	0
SRGAP3	9901	broad.mit.edu	37	3	9052055	9052055	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:9052055C>T	uc003brf.1	-	18	2840	c.2164G>A	c.(2164-2166)GAG>AAG	p.E722K	SRGAP3_uc003brg.1_Missense_Mutation_p.E698K	NM_014850	NP_055665	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	722	SH3.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(4)	central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1)	9				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GCCCCTGGCTCGCTGTGTGGG	0.572			T	RAF1	pilocytic astrocytoma								31	24					0	0	0.002836	0	0
MTMR14	64419	broad.mit.edu	37	3	9719716	9719716	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:9719716C>T	uc003brz.2	+	9	995	c.871C>T	c.(871-873)CTG>TTG	p.L291L	MTMR14_uc003bsa.2_Silent_p.L291L|MTMR14_uc003bsb.2_Silent_p.L291L|MTMR14_uc011ath.1_Intron|MTMR14_uc010hcl.2_Intron|MTMR14_uc003bsc.2_RNA	NM_001077525	NP_001070993	Q8NCE2	MTMRE_HUMAN	jumpy isoform 2	291						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			skin(1)	1	Medulloblastoma(99;0.227)					GACTCACTCTCTGAACATTGA	0.557													31	24					0	0	0.004289	0	0
CAMK1	8536	broad.mit.edu	37	3	9802388	9802389	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:9802388_9802389CC>TT	uc003bst.2	-	8	874_875	c.696_697GG>AA	c.(694-699)AAGGCC>AAAACC	p.A233T	OGG1_uc003bsk.2_Intron|OGG1_uc003bsl.2_Intron|OGG1_uc003bsm.2_Intron|OGG1_uc003bsn.2_Intron|OGG1_uc003bso.2_Intron|CAMK1_uc003bsu.2_RNA|CAMK1_uc003bss.2_5'Flank|uc003bsv.1_5'Flank	NM_003656	NP_003647	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	233	Protein kinase.				cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(1)|skin(1)	2	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		TCGTACTCGGCCTTCAAAATCT	0.515													19	35					0	0	0.004672	0	0
HRH1	3269	broad.mit.edu	37	3	11301359	11301359	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:11301359G>A	uc010hdr.2	+	2	978	c.636G>A	c.(634-636)AAG>AAA	p.K212K	HRH1_uc010hds.2_Silent_p.K212K|HRH1_uc010hdt.2_Silent_p.K212K|HRH1_uc003bwb.3_Silent_p.K212K	NM_001098213	NP_001091683	P35367	HRH1_HUMAN	histamine receptor H1	212	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			large_intestine(1)|ovary(1)	2					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	TCTATGCCAAGATCTACAAGG	0.512													97	47					0	0	0.003610	0	0
TBC1D5	9779	broad.mit.edu	37	3	17226675	17226675	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:17226675G>A	uc003cbf.2	-	19	3443	c.1778C>T	c.(1777-1779)TCC>TTC	p.S593F	TBC1D5_uc010heu.2_Missense_Mutation_p.S180F|TBC1D5_uc010hev.2_Missense_Mutation_p.S615F|TBC1D5_uc003cbe.2_Missense_Mutation_p.S593F|TBC1D5_uc010hew.1_Missense_Mutation_p.S567F	NM_014744	NP_055559	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5 isoform b	593						intracellular	protein binding|Rab GTPase activator activity			ovary(1)	1						TTGAAGGAAGGAAATTTGGGC	0.368													27	51					0	0	0.006320	0	0
EFHB	151651	broad.mit.edu	37	3	19940269	19940269	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:19940269C>T	uc003cbl.3	-	8	1766	c.1570_splice	c.e8+1	p.G524_splice	EFHB_uc003cbm.2_Splice_Site_p.G394_splice	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN	EF hand domain family, member B						signal transduction	proteinaceous extracellular matrix	calcium ion binding				0						TGTATATTTACCATATTCCTC	0.378													24	26					0	0	0.003330	0	0
ARPP21	10777	broad.mit.edu	37	3	35729359	35729359	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:35729359C>T	uc003cgb.2	+	6	654	c.390C>T	c.(388-390)ATC>ATT	p.I130I	ARPP21_uc003cga.2_Silent_p.I130I|ARPP21_uc011axy.1_Silent_p.I130I|ARPP21_uc003cgf.2_5'Flank	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	cyclic AMP-regulated phosphoprotein, 21 kD	130						cytoplasm	nucleic acid binding			ovary(2)|skin(1)	3						AACCCAAGATCAGAATGTTAT	0.338													28	98					0	0	0.002096	0	0
ARPP21	10777	broad.mit.edu	37	3	35732379	35732379	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:35732379C>T	uc003cgb.2	+	9	832	c.568C>T	c.(568-570)CAG>TAG	p.Q190*	ARPP21_uc003cga.2_Nonsense_Mutation_p.Q190*|ARPP21_uc011axy.1_Nonsense_Mutation_p.Q190*|ARPP21_uc003cgf.2_Nonsense_Mutation_p.Q26*	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	cyclic AMP-regulated phosphoprotein, 21 kD	190	R3H.					cytoplasm	nucleic acid binding			ovary(2)|skin(1)	3						AAAGTTCCCTCAGATGTCATC	0.343													24	38					0	0	0.005443	0	0
DCLK3	85443	broad.mit.edu	37	3	36779922	36779922	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:36779922C>T	uc003cgi.2	-	2	720	c.229G>A	c.(229-231)GGG>AGG	p.G77R		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	77						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			lung(3)|large_intestine(2)|breast(1)|skin(1)|ovary(1)|kidney(1)	9						GGGATCTTCCCCTGGTGCCTC	0.602													44	87					0	0	0.003610	0	0
SCN10A	6336	broad.mit.edu	37	3	38748845	38748845	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:38748845C>T	uc003ciq.2	-	25	4311	c.4311G>A	c.(4309-4311)GAG>GAA	p.E1437E		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	1437					sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TCTTCTGCTCCTCTGTCATGA	0.542													59	99					0	0	0.003610	0	0
SCN11A	11280	broad.mit.edu	37	3	38888977	38888977	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:38888977G>A	uc011ays.1	-	26	4783	c.4584C>T	c.(4582-4584)ATC>ATT	p.I1528I		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	1528	IV.				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	ATATGTCATCGATTCCAGACT	0.443													38	18					0	0	0.007835	0	0
SCN11A	11280	broad.mit.edu	37	3	38889074	38889074	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:38889074G>A	uc011ays.1	-	26	4686	c.4487C>T	c.(4486-4488)TCT>TTT	p.S1496F		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	1496	IV.				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GTTGAACAGAGAAGGAAGCGA	0.468													25	15					0	0	0.004656	0	0
CSRNP1	64651	broad.mit.edu	37	3	39186737	39186737	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:39186737G>A	uc003cjg.2	-	3	430	c.216C>T	c.(214-216)ATC>ATT	p.I72I	CSRNP1_uc003cjh.2_Silent_p.I72I	NM_033027	NP_149016	Q96S65	CSRN1_HUMAN	AXIN1 up-regulated 1	72					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(4)|skin(1)	5						CCCGCTTCAGGATAGACAGGG	0.592													29	13					0	0	0.002445	0	0
ULK4	54986	broad.mit.edu	37	3	41942258	41942258	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:41942258C>T	uc003ckv.3	-	13	1447	c.1246G>A	c.(1246-1248)GAC>AAC	p.D416N	ULK4_uc003ckw.2_Missense_Mutation_p.D416N|ULK4_uc003ckx.1_Missense_Mutation_p.D416N	NM_017886	NP_060356	Q96C45	ULK4_HUMAN	unc-51-like kinase 4	416							ATP binding|protein serine/threonine kinase activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.214)		AGATCTGAGTCCGTGTAGATA	0.423													204	123					0	0	0.003610	0	0
ULK4	54986	broad.mit.edu	37	3	41949419	41949419	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:41949419G>A	uc003ckv.3	-	12	1301	c.1100C>T	c.(1099-1101)CCC>CTC	p.P367L	ULK4_uc003ckw.2_Missense_Mutation_p.P367L|ULK4_uc003ckx.1_Missense_Mutation_p.P367L	NM_017886	NP_060356	Q96C45	ULK4_HUMAN	unc-51-like kinase 4	367							ATP binding|protein serine/threonine kinase activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.214)		GCTAGTTCTGGGAGTAGGACG	0.418													42	64					0	0	0.003610	0	0
ZNF445	353274	broad.mit.edu	37	3	44488591	44488591	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:44488591G>A	uc003cnf.2	-	8	2920	c.2572C>T	c.(2572-2574)CAT>TAT	p.H858Y	ZNF445_uc011azv.1_Missense_Mutation_p.H846Y|ZNF445_uc011azw.1_Missense_Mutation_p.H858Y	NM_181489	NP_852466	P59923	ZN445_HUMAN	zinc finger protein 445	858	C2H2-type 10.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		ATTCCCTTATGATCTAAAAGG	0.393													50	104					0	0	0.003610	0	0
ZDHHC3	51304	broad.mit.edu	37	3	45000623	45000623	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:45000623G>A	uc003cod.2	-	2	580	c.306C>T	c.(304-306)CCC>CCT	p.P102P	ZDHHC3_uc003cog.2_Silent_p.P102P|ZDHHC3_uc011bad.1_Silent_p.P102P	NM_016598	NP_057682	Q9NYG2	ZDHC3_HUMAN	zinc finger, DHHC-type containing 3 isoform 2	102	Cytoplasmic (Potential).					Golgi membrane|integral to membrane	zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)		ACATACTCACGGGGTCCGTCA	0.582													42	56					0	0	0.002522	0	0
CDCP1	64866	broad.mit.edu	37	3	45152295	45152295	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:45152295A>G	uc003com.2	-	4	829	c.694T>C	c.(694-696)TCA>CCA	p.S232P	CDCP1_uc003con.2_Missense_Mutation_p.S232P	NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	CUB domain-containing protein 1 isoform 1	232	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		AGGGTTGCTGAGCCTTCACCC	0.552													104	61					0	0	0.003610	0	0
LZTFL1	54585	broad.mit.edu	37	3	45877241	45877241	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:45877241G>A	uc003cox.1	-	3	302	c.164C>T	c.(163-165)TCT>TTT	p.S55F	LZTFL1_uc003coy.1_Missense_Mutation_p.S38F|LZTFL1_uc011bak.1_RNA	NM_020347	NP_065080	Q9NQ48	LZTL1_HUMAN	leucine zipper transcription factor-like 1	55											0				BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		GAGGACTTCAGAGACTTCATC	0.403													44	21					0	0	0.003610	0	0
NBEAL2	23218	broad.mit.edu	37	3	47042835	47042835	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:47042835C>T	uc003cqp.2	+	29	4730	c.4551C>T	c.(4549-4551)GCC>GCT	p.A1517A	NBEAL2_uc010hjm.1_Silent_p.A894A|NBEAL2_uc010hjn.1_5'Flank	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1517	WD 1.						binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GGGTCCTGGCCAGCCTCACCC	0.617													14	33					0	0	0.006122	0	0
PLXNB1	5364	broad.mit.edu	37	3	48461036	48461036	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:48461036G>A	uc003csw.2	-	11	2929	c.2659C>T	c.(2659-2661)CTC>TTC	p.L887F	PLXNB1_uc003csu.2_Missense_Mutation_p.L704F|PLXNB1_uc003csx.2_Missense_Mutation_p.L887F|PLXNB1_uc010hjx.1_RNA	NM_002673	NP_002664	O43157	PLXB1_HUMAN	plexin B1 precursor	887	Extracellular (Potential).				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTGGACGGGAGGATGAGGGGG	0.672													14	52					0	0	0.004990	0	0
COL7A1	1294	broad.mit.edu	37	3	48620846	48620846	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:48620846G>A	uc003ctz.2	-	41	4418	c.4417C>T	c.(4417-4419)CCT>TCT	p.P1473S		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	1473	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)		ATAGCTCCAGGAGGTCCCCGT	0.567													11	7					0	0	0.002450	0	0
QARS	5859	broad.mit.edu	37	3	49136965	49136965	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:49136965G>A	uc003cvx.2	-	16	1509	c.1504C>T	c.(1504-1506)CTT>TTT	p.L502F	QARS_uc011bcc.1_5'Flank|QARS_uc011bcd.1_Missense_Mutation_p.L357F|QARS_uc003cvy.2_Missense_Mutation_p.L357F|QARS_uc011bce.1_Missense_Mutation_p.L491F	NM_005051	NP_005042	P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	502					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	GTTGCTACAAGCTGGAGGATC	0.522													29	84					0	0	0.002096	0	0
USP19	10869	broad.mit.edu	37	3	49154225	49154226	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:49154225_49154226GG>AA	uc003cwd.1	-	6	918_919	c.757_758CC>TT	c.(757-759)CCT>TTT	p.P253F	USP19_uc003cwa.2_Missense_Mutation_p.P59F|USP19_uc003cvz.3_Missense_Mutation_p.P354F|USP19_uc011bcg.1_Missense_Mutation_p.P344F|USP19_uc003cwb.2_Missense_Mutation_p.P339F|USP19_uc003cwc.1_Missense_Mutation_p.P7F|USP19_uc011bch.1_Missense_Mutation_p.P354F|USP19_uc011bci.1_Missense_Mutation_p.P339F	NM_006677	NP_006668	O94966	UBP19_HUMAN	ubiquitin thioesterase 19	253	Cytoplasmic (Potential).				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(4)|breast(2)|lung(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ATCTTTCCCAGGGTTTCTGCTC	0.589													16	25					0	0	0.004672	0	0
KLHDC8B	200942	broad.mit.edu	37	3	49212568	49212568	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:49212568G>A	uc003cwh.2	+	5	1025	c.840G>A	c.(838-840)GGG>GGA	p.G280G	KLHDC8B_uc003cwi.1_3'UTR	NM_173546	NP_775817	Q8IXV7	KLD8B_HUMAN	kelch domain containing 8B	280	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)		GGTCCCTTGGGGGCCACATTG	0.597													9	24					0	0	0.006214	0	0
AMT	275	broad.mit.edu	37	3	49455266	49455266	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:49455266C>T	uc003cww.2	-	8	1147	c.1018G>A	c.(1018-1020)GAG>AAG	p.E340K	AMT_uc011bcn.1_Intron|AMT_uc003cwx.2_Missense_Mutation_p.E340K|AMT_uc011bco.1_Missense_Mutation_p.E296K|AMT_uc003cwy.2_Missense_Mutation_p.E292K|AMT_uc011bcp.1_Missense_Mutation_p.E243K|AMT_uc011bcq.1_Missense_Mutation_p.E284K	NM_000481	NP_000472	P48728	GCST_HUMAN	aminomethyltransferase isoform 1 precursor	340					glycine catabolic process	mitochondrion	aminomethyltransferase activity|transaminase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	TTGGTACCCTCCATGTTCAGG	0.622													22	52					0	0	0.002299	0	0
AMIGO3	386724	broad.mit.edu	37	3	49756613	49756613	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:49756613C>T	uc003cxj.2	-	1	626	c.286G>A	c.(286-288)GAA>AAA	p.E96K	RNF123_uc003cxh.2_Intron|RNF123_uc003cxi.2_Intron	NM_198722	NP_942015	Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	96	Extracellular (Potential).|LRR 2.				heterophilic cell-cell adhesion	integral to membrane				pancreas(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCATCTAGTTCGTTGTGGTCT	0.667											OREG0015572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	48	29					0	0	0.003610	0	0
CAMKV	79012	broad.mit.edu	37	3	49898378	49898378	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:49898378G>A	uc003cxt.1	-	7	829	c.636C>T	c.(634-636)ATC>ATT	p.I212I	CAMKV_uc011bcy.1_Silent_p.I137I|CAMKV_uc003cxv.1_Intron|CAMKV_uc003cxw.1_Silent_p.I44I|CAMKV_uc003cxx.1_Silent_p.I44I|CAMKV_uc003cxu.2_Silent_p.I212I|CAMKV_uc011bcz.1_Silent_p.I175I|CAMKV_uc011bda.1_Silent_p.I169I|CAMKV_uc011bdb.1_RNA	NM_024046	NP_076951	Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	212	Protein kinase.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|large_intestine(2)|central_nervous_system(1)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CCACTCACAGGATGTACATGA	0.592													37	14					0	0	0.004878	0	0
RBM5	10181	broad.mit.edu	37	3	50147119	50147119	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:50147119C>T	uc003cyg.2	+	15	1424	c.1276C>T	c.(1276-1278)CCG>TCG	p.P426S	RBM5_uc011bdj.1_Missense_Mutation_p.P370S|RBM5_uc011bdk.1_Missense_Mutation_p.P254S	NM_005778	NP_005769	P52756	RBM5_HUMAN	RNA binding motif protein 5	426	Required for interaction with U2AF2.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ACCTGGCTCTCCGGTAATCCT	0.463													67	24					0	0	0.003610	0	0
DOCK3	1795	broad.mit.edu	37	3	51101926	51101926	+	Silent	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:51101926A>G	uc011bds.1	+	6	386	c.363A>G	c.(361-363)GAA>GAG	p.E121E		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	121						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TGATGAATGAACTTATTGACC	0.473													87	49					0	0	0.003610	0	0
DOCK3	1795	broad.mit.edu	37	3	51198015	51198015	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:51198015G>A	uc011bds.1	+	12	942	c.919G>A	c.(919-921)GGT>AGT	p.G307S		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	307						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CTCAAAGAAAGGTCCTCCTCA	0.488													12	14					0	0	0.004007	0	0
DOCK3	1795	broad.mit.edu	37	3	51297746	51297746	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:51297746C>T	uc011bds.1	+	23	2367	c.2344C>T	c.(2344-2346)CTT>TTT	p.L782F		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	782						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AGAAACACTCCTTTTTACTCA	0.468													27	7					0	0	0.003755	0	0
RBM15B	29890	broad.mit.edu	37	3	51429941	51429942	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:51429941_51429942CC>TT	uc003dbd.2	+	1	1211_1212	c.1111_1112CC>TT	c.(1111-1113)CCT>TTT	p.P371F		NM_013286	NP_037418	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	371	RRM 2.				interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding				0				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CATCAAGAGGCCTGCCCGTGGC	0.584													36	9					0	0	0.004672	0	0
GLYCTK	132158	broad.mit.edu	37	3	52324538	52324538	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:52324538C>T	uc003ddo.2	+	2	276	c.180C>T	c.(178-180)TCC>TCT	p.S60S	GLYCTK_uc003ddq.2_Silent_p.S60S|GLYCTK_uc003ddm.2_Intron|GLYCTK_uc003ddn.2_RNA|GLYCTK_uc003ddp.1_Silent_p.S60S|GLYCTK_uc003ddr.2_5'Flank	NM_145262	NP_660305	Q8IVS8	GLCTK_HUMAN	glycerate kinase isoform 1	60					protein phosphorylation	Golgi apparatus|mitochondrion	ATP binding|glycerate kinase activity|protein binding				0				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		GGGCACTATCCTTGGACCCTG	0.622													17	19					0	0	0.006122	0	0
DNAH1	25981	broad.mit.edu	37	3	52394075	52394075	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:52394075C>T	uc011bef.1	+	27	4812	c.4551C>T	c.(4549-4551)TTC>TTT	p.F1517F		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1517	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGAATGACTTCCAGTGGATCT	0.577													23	75					0	0	0.002299	0	0
SEMA3G	56920	broad.mit.edu	37	3	52475648	52475648	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:52475648G>A	uc003dea.1	-	6	609	c.609C>T	c.(607-609)TTC>TTT	p.F203F		NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN	semaphorin sem2 precursor	203	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		CTCCACTTCGGAAGATCATGG	0.642													17	12					0	0	0.007413	0	0
SEMA3G	56920	broad.mit.edu	37	3	52475701	52475701	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:52475701C>T	uc003dea.1	-	6	556	c.556G>A	c.(556-558)GAG>AAG	p.E186K		NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN	semaphorin sem2 precursor	186	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		GTGTACAGCTCCCCGTCTGGG	0.657													13	18					0	0	0.001855	0	0
STAB1	23166	broad.mit.edu	37	3	52538152	52538152	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:52538152G>A	uc003dej.2	+	10	1205	c.1131G>A	c.(1129-1131)AGG>AGA	p.R377R	STAB1_uc003dei.1_Silent_p.R377R	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	377	Extracellular (Potential).|FAS1 1.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TGCAGCTGAGGGTCGCCGTGG	0.682													6	2					0	0	0.003080	0	0
GNL3	26354	broad.mit.edu	37	3	52721594	52721594	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:52721594C>T	uc003dfd.2	+	4	460	c.287C>T	c.(286-288)CCT>CTT	p.P96L	PBRM1_uc003dey.2_5'Flank|GNL3_uc011beh.1_RNA|GNL3_uc003dfe.2_Missense_Mutation_p.P84L|GNL3_uc003dff.2_Missense_Mutation_p.P84L|SNORD19_uc003dfg.1_5'Flank	NM_014366	NP_055181	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3	96					regulation of cell proliferation	nucleolus	GTP binding|protein binding				0				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		GAAACTAATCCTGATATTAAG	0.363													20	35					0	0	0.007413	0	0
CACNA1D	776	broad.mit.edu	37	3	53842732	53842732	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:53842732G>A	uc003dgv.3	+	46	5969	c.5806G>A	c.(5806-5808)GAG>AAG	p.E1936K	CACNA1D_uc003dgu.3_Missense_Mutation_p.E1956K|CACNA1D_uc003dgy.3_Missense_Mutation_p.E1912K|CACNA1D_uc003dgw.3_Missense_Mutation_p.E1603K|CACNA1D_uc011bes.1_RNA	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	1936	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)	CAGCCAGGAAGAGGTCCCGTC	0.612													36	27					0	0	0.006999	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54798247	54798247	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:54798247T>A	uc003dhf.2	+	13	1297	c.1249T>A	c.(1249-1251)TTT>ATT	p.F417I	CACNA2D3_uc011beu.1_RNA|CACNA2D3_uc003dhg.1_Missense_Mutation_p.F323I|CACNA2D3_uc003dhh.1_RNA|CACNA2D3_uc010hmv.1_Missense_Mutation_p.F151I	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha	417	Extracellular (Potential).|VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TTTGACAGGATTTTTTACCCA	0.478													76	55					0	0	0.003610	0	0
LRTM1	57408	broad.mit.edu	37	3	54952851	54952851	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:54952851G>A	uc003dhl.2	-	3	807	c.673C>T	c.(673-675)CCT>TCT	p.P225S	CACNA2D3_uc003dhf.2_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	225	Extracellular (Potential).|LRRCT.					integral to membrane					0				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		AGCTCATGAGGGATCCTAAGG	0.547													21	12					0	0	0.001523	0	0
ERC2	26059	broad.mit.edu	37	3	56330372	56330372	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:56330372C>T	uc003dhr.1	-	3	1005	c.749G>A	c.(748-750)GGA>GAA	p.G250E		NM_015576	NP_056391	O15083	ERC2_HUMAN	cytomatrix protein p110	250	Potential.					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GTGCTCCGCTCCTCGGTTGCC	0.557													96	45					0	0	0.003610	0	0
ERC2	26059	broad.mit.edu	37	3	56468381	56468381	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:56468381G>A	uc003dhr.1	-	2	911	c.655C>T	c.(655-657)CAG>TAG	p.Q219*		NM_015576	NP_056391	O15083	ERC2_HUMAN	cytomatrix protein p110	219	Potential.					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TGACCTACCTGATTTTCTTCA	0.478													18	40					0	0	0.006122	0	0
ERC2	26059	broad.mit.edu	37	3	56468947	56468947	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:56468947C>T	uc003dhr.1	-	2	345	c.89G>A	c.(88-90)CGA>CAA	p.R30Q		NM_015576	NP_056391	O15083	ERC2_HUMAN	cytomatrix protein p110	30						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		ACTTGTTCTTCGGTGGCCCAA	0.493													24	32					0	0	0.003330	0	0
C3orf67	200844	broad.mit.edu	37	3	58870409	58870409	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:58870409C>T	uc003dkt.1	-	7	611	c.202G>A	c.(202-204)GAT>AAT	p.D68N	uc003dku.1_Intron|C3orf67_uc003dkv.1_5'UTR|C3orf67_uc003dkw.2_5'UTR	NM_198463	NP_940865	Q6ZVT6	CC067_HUMAN	hypothetical protein LOC200844	68											0		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		GTAGGCTCATCTGTTGAAAAG	0.368													66	40					0	0	0.003610	0	0
FHIT	2272	broad.mit.edu	37	3	59738022	59738022	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:59738022A>T	uc003dkx.3	-	9	745	c.374T>A	c.(373-375)TTT>TAT	p.F125Y	FHIT_uc003dky.2_Missense_Mutation_p.F125Y|FHIT_uc010hnn.1_Missense_Mutation_p.F125Y	NM_002012	NP_002003	P49789	FHIT_HUMAN	fragile histidine triad gene	125					nucleotide metabolic process		bis(5'-adenosyl)-triphosphatase activity|protein binding				0		all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408)		UCEC - Uterine corpus endometrioid carcinoma (45;0.0887)|Epithelial(1;9.28e-70)|all cancers(1;3.07e-60)|Colorectal(1;2.33e-53)|STAD - Stomach adenocarcinoma(1;7.22e-48)|COAD - Colon adenocarcinoma(3;1.05e-44)|READ - Rectum adenocarcinoma(3;2.41e-08)|KIRC - Kidney renal clear cell carcinoma(10;0.000109)|Kidney(10;0.000125)|Lung(1;0.000161)|LUSC - Lung squamous cell carcinoma(1;0.000742)|OV - Ovarian serous cystadenocarcinoma(275;0.00372)|BRCA - Breast invasive adenocarcinoma(55;0.00448)		AGAGGCAGGAAAGTCCTCCTT	0.502			T	HMGA2	pleomorphic salivary gland adenoma				Renal_Cell_Cancer_associated_with_constitutional_translocation_of_chromosome_3				45	27					0	0	0.003610	0	0
MAGI1	9223	broad.mit.edu	37	3	65376990	65376990	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:65376990C>T	uc003dmn.2	-	14	2769	c.2243G>A	c.(2242-2244)AGT>AAT	p.S748N	MAGI1_uc003dmm.2_Missense_Mutation_p.S748N|MAGI1_uc003dmo.2_Missense_Mutation_p.S748N|MAGI1_uc003dmp.2_Missense_Mutation_p.S748N|MAGI1_uc010hnx.1_Missense_Mutation_p.S31N	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ	748					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)		GCTGGAAACACTGTGCTGAGA	0.507													13	34					0	0	0.002450	0	0
MAGI1	9223	broad.mit.edu	37	3	65415681	65415681	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:65415681C>T	uc003dmn.2	-	12	2207	c.1681G>A	c.(1681-1683)GAT>AAT	p.D561N	MAGI1_uc003dmm.2_Missense_Mutation_p.D561N|MAGI1_uc003dmo.2_Missense_Mutation_p.D561N|MAGI1_uc003dmp.2_Missense_Mutation_p.D561N|MAGI1_uc010hny.2_Missense_Mutation_p.D446N	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ	561					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)		TCATCTGGATCAAAAGGCAAT	0.463													37	49					0	0	0.002522	0	0
MAGI1	9223	broad.mit.edu	37	3	65479241	65479241	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:65479241C>T	uc003dmn.2	-	3	1022	c.496G>A	c.(496-498)GAG>AAG	p.E166K	MAGI1_uc003dmm.2_Missense_Mutation_p.E166K|MAGI1_uc003dmo.2_Missense_Mutation_p.E166K|MAGI1_uc003dmp.2_Missense_Mutation_p.E166K|MAGI1_uc010hny.2_Missense_Mutation_p.E50K|MAGI1_uc003dmr.2_Missense_Mutation_p.E166K	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ	166	Guanylate kinase-like.				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)		TCCAAGAACTCCTTCACAGTC	0.488													43	25					0	0	0.003610	0	0
LRIG1	26018	broad.mit.edu	37	3	66460624	66460624	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:66460624G>A	uc003dmx.2	-	7	878	c.864C>T	c.(862-864)CTC>CTT	p.L288L	LRIG1_uc010hnz.2_Silent_p.L28L|LRIG1_uc010hoa.2_Silent_p.L288L	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like	288	Extracellular (Potential).|LRR 10.					integral to membrane				skin(3)|ovary(2)	5		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TGCTGAGGTGGAGCTGATGCA	0.577													139	92					0	0	0.003610	0	0
KBTBD8	84541	broad.mit.edu	37	3	67054579	67054579	+	Silent	SNP	A	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:67054579A>C	uc003dmy.2	+	3	1241	c.1188A>C	c.(1186-1188)GGA>GGC	p.G396G	KBTBD8_uc011bfv.1_Intron	NM_032505	NP_115894	Q8NFY9	KBTB8_HUMAN	T-cell activation kelch repeat protein	396	Kelch 2.									ovary(2)|large_intestine(1)|breast(1)	4		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		ATGCAATCGGAGGTCGTGTTT	0.443													85	66					0	0	0.003610	0	0
CNTN3	5067	broad.mit.edu	37	3	74351883	74351884	+	Missense_Mutation	DNP	CC	TA	TA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:74351883_74351884CC>TA	uc003dpm.1	-	13	1823_1824	c.1743_1744GG>TA	c.(1741-1746)ACGGGG>ACTAGG	p.G582R		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	582	Ig-like C2-type 6.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CTGTCCACCCCCGTTTGCACCA	0.406													24	16					0	0	0.004672	0	0
ROBO2	6092	broad.mit.edu	37	3	77612436	77612436	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:77612436C>T	uc003dpy.3	+	11	2281	c.1638C>T	c.(1636-1638)ACC>ACT	p.T546T	ROBO2_uc003dpz.2_Silent_p.T550T|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Silent_p.T550T	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	546	Extracellular (Potential).|Fibronectin type-III 1.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AGCCAGGTACCCCTGGAACCC	0.463													15	49					0	0	0.008871	0	0
CADM2	253559	broad.mit.edu	37	3	85961660	85961660	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:85961660C>T	uc003dqj.2	+	5	1266	c.640C>T	c.(640-642)CCT>TCT	p.P214S	CADM2_uc003dqk.2_Missense_Mutation_p.P223S|CADM2_uc003dql.2_Missense_Mutation_p.P216S	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	immunoglobulin superfamily, member 4D	214	Ig-like C2-type 1.|Extracellular (Potential).				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				ovary(1)|lung(1)|kidney(1)|skin(1)	4		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		CAATGCCACCCCTCAGGTAGC	0.488													26	24					0	0	0.006320	0	0
Unknown	0	broad.mit.edu	37	3	95374304	95374304	+	RNA	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:95374304C>T	uc003dro.1	-	5		c.1558G>A								Homo sapiens cDNA FLJ34909 fis, clone NT2RI2009301, moderately similar to BIFUNCTIONAL METHYLENETETRAHYDROFOLATE DEHYDROGENASE/CYCLOHYDROLASE, MITOCHONDRIAL PRECURSOR.																		AATGTCAGTTCGCTTAATTAT	0.448													14	41					0	0	0.003163	0	0
EPHA6	285220	broad.mit.edu	37	3	96706243	96706243	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:96706243G>A	uc010how.1	+	3	563	c.520G>A	c.(520-522)GAA>AAA	p.E174K	EPHA6_uc003drp.1_Missense_Mutation_p.E174K	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	79	Ephrin-binding.|Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity	p.R174C(1)		stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						TAATGTAATGGAACCAAACCA	0.388													40	93					0	0	0.007835	0	0
EPHA6	285220	broad.mit.edu	37	3	97251309	97251309	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:97251309G>A	uc010how.1	+	11	2351	c.2308G>A	c.(2308-2310)GAT>AAT	p.D770N	EPHA6_uc011bgo.1_RNA|EPHA6_uc011bgp.1_Missense_Mutation_p.D136N|EPHA6_uc003drs.3_Missense_Mutation_p.D162N|EPHA6_uc003drr.3_Missense_Mutation_p.D162N|EPHA6_uc003drt.2_Missense_Mutation_p.D162N|EPHA6_uc010hox.1_RNA	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	675	Protein kinase.|Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						GCAAAGAAGAGATTTTCTAAG	0.438													23	56					0	0	0.002299	0	0
OR5H15	403274	broad.mit.edu	37	3	97888442	97888442	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:97888442C>T	uc011bgu.1	+	1	899	c.899C>T	c.(898-900)TCA>TTA	p.S300L		NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H,	300	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						GTCATAGTTTCATTCATAAAA	0.308													13	43					0	0	0.001368	0	0
SENP7	57337	broad.mit.edu	37	3	101066822	101066822	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:101066822A>T	uc003dut.2	-	13	1842	c.1731T>A	c.(1729-1731)GAT>GAA	p.D577E	SENP7_uc003duu.2_Missense_Mutation_p.D512E|SENP7_uc003duv.2_Missense_Mutation_p.D544E|SENP7_uc003duw.2_Missense_Mutation_p.D511E|SENP7_uc003dux.2_Missense_Mutation_p.D413E	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	sentrin/SUMO-specific protease 7 isoform 1	577					proteolysis	nucleus	cysteine-type peptidase activity			ovary(3)|lung(2)	5						TGTGATTATCATCCTTACTTT	0.358													45	114					0	0	0.003610	0	0
MYH15	22989	broad.mit.edu	37	3	108129643	108129643	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:108129643G>A	uc003dxa.1	-	32	4399	c.4342C>T	c.(4342-4344)CGC>TGC	p.R1448C		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	myosin, heavy polypeptide 15	1448	Potential.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(5)|central_nervous_system(2)	7						GCTGCAGAGCGGACCTTCCCG	0.647													12	28					0	0	0.002450	0	0
MORC1	27136	broad.mit.edu	37	3	108723946	108723946	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:108723946C>T	uc003dxl.2	-	19	2071	c.1984G>A	c.(1984-1986)GAA>AAA	p.E662K	MORC1_uc011bhn.1_Missense_Mutation_p.E641K	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	662					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			ovary(3)|skin(3)|breast(2)	8						TTGACATTTTCTGGCAGAGCT	0.348													34	77					0	0	0.003271	0	0
TMPRSS7	344805	broad.mit.edu	37	3	111795758	111795758	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:111795758G>A	uc010hqb.2	+	14	1783	c.1613G>A	c.(1612-1614)GGG>GAG	p.G538E	TMPRSS7_uc011bhr.1_Missense_Mutation_p.G393E	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	664	Extracellular (Potential).|Peptidase S1.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			ovary(1)|kidney(1)	2						GCACACCTCGGGATGTATGTT	0.428													44	102					0	0	0.002222	0	0
SLC9A10	285335	broad.mit.edu	37	3	111923141	111923141	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:111923141T>C	uc003dyu.2	-	17	2318	c.2096A>G	c.(2095-2097)AAG>AGG	p.K699R	SLC9A10_uc011bhu.1_Intron|SLC9A10_uc010hqc.2_Missense_Mutation_p.K651R	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	sperm-specific sodium proton exchanger	699					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity			ovary(3)|breast(2)	5						AAAAATATACTTAATGGTGTC	0.299													33	71					0	0	0.002836	0	0
SLC9A10	285335	broad.mit.edu	37	3	111988878	111988878	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:111988878G>A	uc003dyu.2	-	7	882	c.660C>T	c.(658-660)TTC>TTT	p.F220F	SLC9A10_uc011bhu.1_Intron|SLC9A10_uc010hqc.2_Silent_p.F220F	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	sperm-specific sodium proton exchanger	220	Helical; (Potential).				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity			ovary(3)|breast(2)	5						TTCCAAACAAGAAACTTGCTA	0.318													45	126					0	0	0.003610	0	0
WDR52	55779	broad.mit.edu	37	3	113098242	113098242	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:113098242C>G	uc003eae.1	-	17	2255	c.2209G>C	c.(2209-2211)GAG>CAG	p.E737Q		NM_018338	NP_060808	Q96MT7	WDR52_HUMAN	WD repeat domain 52 isoform 2	737	Glu-rich.									central_nervous_system(1)	1						GGTAATGGctcttcttcctcc	0.343													18	29					0	0	0.004990	0	0
ATP6V1A	523	broad.mit.edu	37	3	113508623	113508623	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:113508623G>A	uc003eao.2	+	8	990	c.924G>A	c.(922-924)AGG>AGA	p.R308R	ATP6V1A_uc011bik.1_Silent_p.R275R	NM_001690	NP_001681	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal V1 subunit A	308					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			ovary(2)|skin(1)	3						TTATGAAGAGGACAGCTTTGG	0.368													25	86					0	0	0.002096	0	0
GSK3B	2932	broad.mit.edu	37	3	119666176	119666176	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:119666176C>T	uc003edo.2	-	3	1288	c.305G>A	c.(304-306)AGA>AAA	p.R102K	GSK3B_uc003edn.2_Missense_Mutation_p.R102K	NM_001146156	NP_001139628	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta isoform 2	102	Protein kinase.				axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding			lung(2)	2				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	ATCTAGCTTTCTCATGATCTG	0.343													38	81					0	0	0.006999	0	0
STXBP5L	9515	broad.mit.edu	37	3	120924811	120924811	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:120924811C>T	uc003eec.3	+	10	1059	c.919C>T	c.(919-921)CCA>TCA	p.P307S	STXBP5L_uc011bji.1_Missense_Mutation_p.P307S	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	307	WD 6.				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				ovary(7)|skin(2)	9				GBM - Glioblastoma multiforme(114;0.0694)		ATCTTGTAAACCAATTCTTAA	0.274													29	71					0	0	0.003271	0	0
STXBP5L	9515	broad.mit.edu	37	3	120957858	120957858	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:120957858G>A	uc003eec.3	+	13	1365	c.1225G>A	c.(1225-1227)GAA>AAA	p.E409K	STXBP5L_uc011bji.1_Missense_Mutation_p.E409K	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	409					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				ovary(7)|skin(2)	9				GBM - Glioblastoma multiforme(114;0.0694)		GGACATTCATGAATCACCAGT	0.313													25	63					0	0	0.002780	0	0
STXBP5L	9515	broad.mit.edu	37	3	121126203	121126203	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:121126203A>T	uc003eec.3	+	24	2913	c.2773A>T	c.(2773-2775)AAT>TAT	p.N925Y	STXBP5L_uc011bji.1_Missense_Mutation_p.N901Y	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	925	WD 12.				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				ovary(7)|skin(2)	9				GBM - Glioblastoma multiforme(114;0.0694)		CATAGATGAAAATGAAAAATC	0.393													20	42					0	0	0.008871	0	0
EAF2	55840	broad.mit.edu	37	3	121575903	121575903	+	Silent	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:121575903A>G	uc003een.2	+	4	483	c.384A>G	c.(382-384)CAA>CAG	p.Q128Q	EAF2_uc003eeo.2_5'UTR	NM_018456	NP_060926	Q96CJ1	EAF2_HUMAN	ELL associated factor 2	128	Poly-Gln.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding				0				GBM - Glioblastoma multiforme(114;0.0972)		AACAACAGCAACAACAAATGT	0.358													23	53					0	0	0.002299	0	0
CD86	942	broad.mit.edu	37	3	121825191	121825191	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:121825191G>A	uc003eet.2	+	4	663	c.547G>A	c.(547-549)GAT>AAT	p.D183N	CD86_uc011bjo.1_Missense_Mutation_p.D101N|CD86_uc011bjp.1_Missense_Mutation_p.D71N|CD86_uc003eeu.2_Missense_Mutation_p.D177N	NM_175862	NP_787058	P42081	CD86_HUMAN	CD86 antigen isoform 1	183	Ig-like C2-type.|Extracellular (Potential).				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			pancreas(1)|skin(1)	2				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	TATCGAGTATGATGGTGTTAT	0.383													42	53					0	0	0.003214	0	0
SEMA5B	54437	broad.mit.edu	37	3	122632266	122632266	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:122632266G>A	uc003efz.1	-	17	2590	c.2286C>T	c.(2284-2286)TTC>TTT	p.F762F	SEMA5B_uc011bju.1_Silent_p.F704F|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Silent_p.F762F|SEMA5B_uc010hro.1_Silent_p.F704F|SEMA5B_uc003efy.1_5'Flank	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	762	Extracellular (Potential).|TSP type-1 2.				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)		TGCACGTCTTGAACTCCTGCG	0.726													4	9					0	0	0.000602	0	0
PDIA5	10954	broad.mit.edu	37	3	122849384	122849384	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:122849384C>T	uc003egc.1	+	11	887	c.831C>T	c.(829-831)TCC>TCT	p.S277S	PDIA5_uc003egd.1_Intron	NM_006810	NP_006801	Q14554	PDIA5_HUMAN	protein disulfide isomerase A5 precursor	277	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.0427)		AGGGCGGCTCCGTTTATCACC	0.587													23	47					0	0	0.002299	0	0
ADCY5	111	broad.mit.edu	37	3	123071390	123071390	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:123071390G>A	uc003egh.1	-	2	1173	c.1173C>T	c.(1171-1173)ATC>ATT	p.I391I	ADCY5_uc003egg.1_Silent_p.I24I|ADCY5_uc003egi.1_5'UTR	NM_183357	NP_899200	O95622	ADCY5_HUMAN	adenylate cyclase 5	391	Helical; (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)		AGACACCCACGATGTTGGTGC	0.587													21	36					0	0	0.003330	0	0
CCDC14	64770	broad.mit.edu	37	3	123666084	123666084	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:123666084G>A	uc011bjx.1	-	8	1002	c.911C>T	c.(910-912)TCA>TTA	p.S304L	CCDC14_uc003egv.3_Intron|CCDC14_uc003egx.3_Missense_Mutation_p.S104L|CCDC14_uc010hrt.2_Missense_Mutation_p.S263L|CCDC14_uc003egy.3_Missense_Mutation_p.S104L|CCDC14_uc003egz.2_Missense_Mutation_p.S104L	NM_022757	NP_073594	Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	304						centrosome					0		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		GGTATTAAATGAATTCCGTAG	0.408													30	73					0	0	0.008361	0	0
HEG1	57493	broad.mit.edu	37	3	124689556	124689557	+	Missense_Mutation	DNP	GA	AC	AC			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:124689556_124689557GA>AC	uc003ehs.3	-	17	4153_4154	c.4085_4086TC>GT	c.(4084-4086)TTC>TGT	p.F1362C	HEG1_uc003ehr.3_Missense_Mutation_p.F216C|HEG1_uc011bke.1_Missense_Mutation_p.F1462C	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	HEG homolog 1 precursor	1362	Cytoplasmic (Potential).					extracellular region|integral to membrane	calcium ion binding			ovary(2)	2						ACTGTCCGGGGAAAATGCAAGA	0.49													5	13					0	0	0.004672	0	0
SLC12A8	84561	broad.mit.edu	37	3	124826485	124826485	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:124826485G>A	uc003ehv.3	-	10	1656	c.1545C>T	c.(1543-1545)TTC>TTT	p.F515F	SLC12A8_uc003ehw.3_Silent_p.F544F|SLC12A8_uc003eht.3_Silent_p.F316F|SLC12A8_uc003ehu.3_Silent_p.F268F|SLC12A8_uc010hry.2_Silent_p.F268F	NM_024628	NP_078904	A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	515					potassium ion transport	integral to membrane	symporter activity				0						TCTCGACAGGGAAAGAAGGAG	0.557													27	46					0	0	0.008361	0	0
UROC1	131669	broad.mit.edu	37	3	126218907	126218907	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:126218907C>T	uc003eiz.1	-	12	1268	c.1236G>A	c.(1234-1236)CAG>CAA	p.Q412Q	UROC1_uc010hsi.1_Silent_p.Q472Q	NM_144639	NP_653240	Q96N76	HUTU_HUMAN	urocanase domain containing 1 isoform 1	412					histidine catabolic process	cytosol	urocanate hydratase activity			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.17)		tACCTGCTCTCTGGGCCTCCA	0.527													17	33					0	0	0.007413	0	0
PLXND1	23129	broad.mit.edu	37	3	129290066	129290066	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:129290066G>A	uc003emx.2	-	18	3517	c.3417C>T	c.(3415-3417)TTC>TTT	p.F1139F		NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1 precursor	1139	Extracellular (Potential).|IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane				large_intestine(1)	1						CATTGATGAAGAAGTCCACTG	0.657													22	31					0	0	0.001882	0	0
DNAJC13	23317	broad.mit.edu	37	3	132185203	132185203	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:132185203C>T	uc003eor.2	+	19	2094	c.2029C>T	c.(2029-2031)CGG>TGG	p.R677W	DNAJC13_uc010htq.1_Missense_Mutation_p.R677W	NM_015268	NP_056083	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	677							heat shock protein binding			ovary(1)|breast(1)	2						GGATGCTGATCGGATGCATGT	0.388													20	51					0	0	0.002299	0	0
TMEM108	66000	broad.mit.edu	37	3	133099807	133099807	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:133099807C>T	uc003eph.2	+	4	1526	c.1252C>T	c.(1252-1254)CTC>TTC	p.L418F	TMEM108_uc003epi.2_Missense_Mutation_p.L418F|TMEM108_uc003epj.1_Missense_Mutation_p.L418F|TMEM108_uc003epk.2_Intron|TMEM108_uc003epm.2_Missense_Mutation_p.L369F	NM_023943	NP_076432	Q6UXF1	TM108_HUMAN	transmembrane protein 108 precursor	418	Extracellular (Potential).					integral to membrane				ovary(2)|skin(2)	4						GCCCAGTCCTCTCTCCACAGT	0.612													10	29					0	0	0.008291	0	0
BFSP2	8419	broad.mit.edu	37	3	133191377	133191377	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:133191377C>T	uc003epn.1	+	6	1350	c.1212C>T	c.(1210-1212)TCC>TCT	p.S404S		NM_003571	NP_003562	Q13515	BFSP2_HUMAN	phakinin	404	Tail.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens				0						ACGTGGCGTCCTACCACGCCC	0.577													10	23					0	0	0.000978	0	0
KY	339855	broad.mit.edu	37	3	134322757	134322757	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:134322757G>A	uc010hty.2	-	11	1712	c.1650C>T	c.(1648-1650)TTC>TTT	p.F550F	KY_uc011blw.1_3'UTR|KY_uc011blx.1_Silent_p.F529F	NM_178554	NP_848649	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						cytoskeleton|Z disc	peptidase activity			ovary(2)	2						AATTAAAGACGAAGATGTAGT	0.517													20	33					0	0	0.001523	0	0
KY	339855	broad.mit.edu	37	3	134327570	134327570	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:134327570C>T	uc010hty.2	-	10	1073	c.1011G>A	c.(1009-1011)GAG>GAA	p.E337E	KY_uc011blw.1_Intron|KY_uc011blx.1_Silent_p.E316E|KY_uc003eqr.1_Silent_p.E103E	NM_178554	NP_848649	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	337						cytoskeleton|Z disc	peptidase activity			ovary(2)	2						ACATGTTGTTCTCAAACTGCC	0.507													27	66					0	0	0.005443	0	0
STAG1	10274	broad.mit.edu	37	3	136152423	136152423	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:136152423G>A	uc003era.1	-	16	1917	c.1625C>T	c.(1624-1626)CCA>CTA	p.P542L	STAG1_uc003erb.1_Missense_Mutation_p.P542L|STAG1_uc003erc.1_Missense_Mutation_p.P316L|STAG1_uc010hua.1_Missense_Mutation_p.P405L	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	stromal antigen 1	542					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(2)	2						CCTTCCCACTGGAGGATGTGC	0.378													19	56					0	0	0.002780	0	0
CLDN18	51208	broad.mit.edu	37	3	137717741	137717741	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:137717741T>C	uc003ero.1	+	1	84	c.31T>C	c.(31-33)TTC>CTC	p.F11L		NM_001002026	NP_001002026	P56856	CLD18_HUMAN	claudin 18 isoform 2	11	Helical; (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			upper_aerodigestive_tract(1)|ovary(1)	2						GGGCTTGGGGTTCGTGGTTTC	0.557													20	62					0	0	0.008871	0	0
NMNAT3	349565	broad.mit.edu	37	3	139297761	139297761	+	Silent	SNP	A	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:139297761A>C	uc003etj.2	-	2	286	c.246T>G	c.(244-246)CCT>CCG	p.P82P	NMNAT3_uc003etk.2_Silent_p.P45P|NMNAT3_uc003etl.2_RNA|NMNAT3_uc010hul.2_Intron	NM_178177	NP_835471	Q96T66	NMNA3_HUMAN	nicotinamide mononucleotide adenylyltransferase	82					water-soluble vitamin metabolic process	cytosol|mitochondrion	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity				0						CACTCTCCCAAGGGTCCACCC	0.592													11	27					0	0	0.001368	0	0
CLSTN2	64084	broad.mit.edu	37	3	140167509	140167509	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:140167509G>A	uc003etn.2	+	6	1126	c.936G>A	c.(934-936)CGG>CGA	p.R312R	CLSTN2_uc003etm.2_Silent_p.R312R	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	calsyntenin 2 precursor	312	Extracellular (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						GTTGTGACCGGGAGACCTACT	0.443										HNSCC(16;0.037)			41	99					0	0	0.002522	0	0
CLSTN2	64084	broad.mit.edu	37	3	140281652	140281652	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:140281652G>A	uc003etn.2	+	14	2403	c.2213_splice	c.e14-1	p.G738_splice		NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	calsyntenin 2 precursor						homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						TCTTGGCACAGGTGTGGGCTC	0.567										HNSCC(16;0.037)			21	36					0	0	0.003330	0	0
ATR	545	broad.mit.edu	37	3	142253975	142253975	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:142253975C>T	uc003eux.3	-	21	4014	c.3892G>A	c.(3892-3894)GAT>AAT	p.D1298N		NM_001184	NP_001175	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related protein	1298					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						ATACGAACATCGACATTTTCA	0.358								Other_conserved_DNA_damage_response_genes					23	76					0	0	0.006320	0	0
SLC9A9	285195	broad.mit.edu	37	3	143186016	143186016	+	Silent	SNP	G	A	A	rs141105678		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:143186016G>A	uc003evn.2	-	12	1514	c.1332C>T	c.(1330-1332)ATC>ATT	p.I444I		NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN	solute carrier family 9 (sodium/hydrogen	444	Helical; (Potential).				regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			ovary(2)|skin(1)	3						AGGCAAATGCGATCGCTCCTC	0.428													20	52					0	0	0.002299	0	0
MED12L	116931	broad.mit.edu	37	3	150911295	150911295	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:150911295G>A	uc003eyp.2	+	14	2025	c.1987G>A	c.(1987-1989)GGA>AGA	p.G663R	MED12L_uc011bnz.1_Missense_Mutation_p.G523R|MED12L_uc003eyn.2_Missense_Mutation_p.G698R|MED12L_uc003eyo.2_Missense_Mutation_p.G663R	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	663					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCCTATGCCTGGAGAATCCTG	0.393													20	44					0	0	0.001523	0	0
GPR87	53836	broad.mit.edu	37	3	151012615	151012615	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:151012615T>A	uc003eyt.2	-	3	780	c.419A>T	c.(418-420)TAT>TTT	p.Y140F	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron	NM_023915	NP_076404	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	140	Cytoplasmic (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			large_intestine(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CACCTTCAGATAGCGATCAAT	0.413													22	41					0	0	0.002780	0	0
RAP2B	5912	broad.mit.edu	37	3	152880782	152880782	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:152880782C>T	uc003ezr.2	+	1	754	c.300C>T	c.(298-300)ATC>ATT	p.I100I		NM_002886	NP_002877	P61225	RAP2B_HUMAN	RAP2B, member of RAS oncogene family precursor	100					Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			lung(2)	2			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			GGGACCAGATCATCCGCGTGA	0.627													16	46					0	0	0.007413	0	0
DHX36	170506	broad.mit.edu	37	3	154001041	154001041	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:154001041C>T	uc003ezy.3	-	20	2393	c.2312G>A	c.(2311-2313)CGA>CAA	p.R771Q	DHX36_uc010hvq.2_Missense_Mutation_p.R757Q|DHX36_uc003ezz.3_Missense_Mutation_p.R742Q	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	771						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GAAACCACGTCGCCTAGCCTC	0.388													42	77					0	0	0.002852	0	0
GPR149	344758	broad.mit.edu	37	3	154055947	154055947	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:154055947C>T	uc003faa.2	-	4	1837	c.1737G>A	c.(1735-1737)GGG>GGA	p.G579G		NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	579	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(6)	6			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TTATTTTTTGCCCTTCTGCGC	0.458													71	131					0	0	0.003610	0	0
GFM1	85476	broad.mit.edu	37	3	158376776	158376776	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:158376776C>T	uc003fce.2	+	9	1256	c.1149C>T	c.(1147-1149)ACC>ACT	p.T383T	GFM1_uc003fcd.2_Silent_p.T383T|GFM1_uc003fcf.2_RNA|GFM1_uc003fcg.2_Silent_p.T314T	NM_024996	NP_079272	Q96RP9	EFGM_HUMAN	G elongation factor, mitochondrial 1 precursor	383					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			ovary(3)|central_nervous_system(1)	4			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			AGGGTGACACCATCTATAACA	0.448													22	47					0	0	0.002299	0	0
SLITRK3	22865	broad.mit.edu	37	3	164906436	164906436	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:164906436G>A	uc003fej.3	-	2	2627	c.2183C>T	c.(2182-2184)TCC>TTC	p.S728F	SLITRK3_uc003fek.2_Missense_Mutation_p.S728F	NM_014926	NP_055741	O94933	SLIK3_HUMAN	slit and trk like 3 protein precursor	728	Cytoplasmic (Potential).					integral to membrane				ovary(6)|skin(3)|pancreas(1)	10						CTCTGGAGAGGAAAGAGTTGG	0.448										HNSCC(40;0.11)			8	26					0	0	0.003080	0	0
SERPINI2	5276	broad.mit.edu	37	3	167159919	167159919	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:167159919C>T	uc003fer.1	-	8	1254	c.1196G>A	c.(1195-1197)GGA>GAA	p.G399E	SERPINI2_uc003fes.1_Missense_Mutation_p.G409E|SERPINI2_uc003fet.1_Missense_Mutation_p.G399E	NM_006217	NP_006208	O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin),	399					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			skin(2)|urinary_tract(1)	3						TAAATCTCTTCCTTTTATCTC	0.328													12	31					0	0	0.001855	0	0
LOC100128164	100128164	broad.mit.edu	37	3	169664194	169664194	+	RNA	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:169664194C>T	uc011bpp.1	-	2		c.3609G>A				NR_027622				Homo sapiens cDNA FLJ41016 fis, clone UTERU2018784.												0						CCTTGTACTCCATTTTTGATC	0.507													23	27					0	0	0.002780	0	0
SPATA16	83893	broad.mit.edu	37	3	172834923	172834923	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:172834923C>T	uc003fin.3	-	2	757	c.599G>A	c.(598-600)AGA>AAA	p.R200K		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	200					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			ovary(2)|skin(1)	3	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			AAGTGCTGTTCTGAACTGTCC	0.423													41	90					0	0	0.003610	0	0
NAALADL2	254827	broad.mit.edu	37	3	175520845	175520845	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:175520845G>A	uc003fit.2	+	14	2329	c.2242G>A	c.(2242-2244)GAG>AAG	p.E748K		NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	748	Extracellular (Potential).				proteolysis	integral to membrane	peptidase activity			pancreas(1)	1	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		AATACTTATAGAGGCTTGGGA	0.388													12	26					0	0	0.001368	0	0
CCDC39	339829	broad.mit.edu	37	3	180378435	180378435	+	Silent	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:180378435A>G	uc010hxe.2	-	4	554	c.439T>C	c.(439-441)TTA>CTA	p.L147L	CCDC39_uc003fkn.2_RNA	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	147					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				ovary(4)	4	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GATTCTTCTAACCAGGCCTCC	0.373													11	14					0	0	0.008291	0	0
MCF2L2	23101	broad.mit.edu	37	3	182897933	182897933	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:182897933C>T	uc003fli.1	-	28	3121	c.3031G>A	c.(3031-3033)GAG>AAG	p.E1011K		NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Rho family guanine-nucleotide exchange factor	1011					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)|large_intestine(2)|breast(1)	5	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GAGCTAAACTCCCTGCTGGAG	0.542													61	102					0	0	0.003610	0	0
ETV5	2119	broad.mit.edu	37	3	185823275	185823275	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:185823275C>T	uc003fpz.2	-	4	391	c.144G>A	c.(142-144)CAG>CAA	p.Q48Q	ETV5_uc003fpy.2_Silent_p.Q90Q	NM_004454	NP_004445	P41161	ETV5_HUMAN	ets variant gene 5 (ets-related molecule)	48					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(2)|skin(2)|breast(1)	5	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			GACTGAGATCCTGAAATAGCT	0.388			T	TMPRSS2|SCL45A3	Prostate 								29	57					0	0	0.002836	0	0
DGKG	1608	broad.mit.edu	37	3	185882754	185882754	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:185882754C>T	uc003fqa.2	-	23	2686	c.2149G>A	c.(2149-2151)GGG>AGG	p.G717R	DGKG_uc003fqb.2_Missense_Mutation_p.G678R|DGKG_uc003fqc.2_Missense_Mutation_p.G692R|DGKG_uc011brx.1_Missense_Mutation_p.G658R	NM_001346	NP_001337	P49619	DGKG_HUMAN	diacylglycerol kinase gamma isoform 1	717					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	TAGATCTGCCCCATCTCCATG	0.567													21	28					0	0	0.008871	0	0
FETUB	26998	broad.mit.edu	37	3	186370176	186370176	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:186370176G>A	uc010hyq.2	+	8	1166	c.905G>A	c.(904-906)GGA>GAA	p.G302E	FETUB_uc011brz.1_Missense_Mutation_p.G154E|FETUB_uc003fqn.2_Missense_Mutation_p.G302E|FETUB_uc003fqo.2_Missense_Mutation_p.G197E|FETUB_uc010hyr.2_Missense_Mutation_p.G265E|FETUB_uc010hys.2_Missense_Mutation_p.G154E|FETUB_uc003fqp.3_Missense_Mutation_p.G237E	NM_014375	NP_055190	Q9UGM5	FETUB_HUMAN	fetuin B precursor	302						extracellular space	cysteine-type endopeptidase inhibitor activity			ovary(1)|lung(1)	2	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		GGGCCAAGAGGATCTGTCCAA	0.512													25	76					0	0	0.003954	0	0
FETUB	26998	broad.mit.edu	37	3	186370277	186370278	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:186370277_186370278GG>AA	uc010hyq.2	+	8	1267_1268	c.1006_1007GG>AA	c.(1006-1008)GGA>AAA	p.G336K	FETUB_uc011brz.1_Missense_Mutation_p.G188K|FETUB_uc003fqn.2_Missense_Mutation_p.G336K|FETUB_uc003fqo.2_Missense_Mutation_p.G231K|FETUB_uc010hyr.2_Missense_Mutation_p.G299K|FETUB_uc010hys.2_Missense_Mutation_p.G188K|FETUB_uc003fqp.3_Missense_Mutation_p.G271K	NM_014375	NP_055190	Q9UGM5	FETUB_HUMAN	fetuin B precursor	336						extracellular space	cysteine-type endopeptidase inhibitor activity			ovary(1)|lung(1)	2	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		GAATCCCCAGGGAGAAACCCTG	0.515													27	63					0	0	0.004672	0	0
TP63	8626	broad.mit.edu	37	3	189612073	189612073	+	Missense_Mutation	SNP	G	A	A	rs142762485		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:189612073G>A	uc003fry.2	+	14	1914	c.1825G>A	c.(1825-1827)GAA>AAA	p.E609K	TP63_uc003frz.2_3'UTR|TP63_uc010hzc.1_3'UTR|TP63_uc003fsc.2_Missense_Mutation_p.E515K|TP63_uc003fsd.2_3'UTR|TP63_uc010hzd.1_Missense_Mutation_p.E430K	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	tumor protein p63 isoform 1	609					anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E609K(1)		skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	12	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GCAGCTCCACGAATTCTCCTC	0.567									Hay-Wells_syndrome	HNSCC(45;0.13)			21	52					0	0	0.001882	0	0
CLDN16	10686	broad.mit.edu	37	3	190127728	190127728	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:190127728G>A	uc003fsi.2	+	5	889	c.821G>A	c.(820-822)AGG>AAG	p.R274K	CLDN16_uc010hze.2_3'UTR	NM_006580	NP_006571	Q9Y5I7	CLD16_HUMAN	claudin 16	274	Cytoplasmic (Potential).				calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity			ovary(1)	1	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		TATTCCTTGAGGAAAGCCTAT	0.408													22	49					0	0	0.001882	0	0
PYDC2	152138	broad.mit.edu	37	3	191178966	191178966	+	Silent	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:191178966A>T	uc011bso.1	+	1	15	c.15A>T	c.(13-15)GCA>GCT	p.A5A		NM_001083308	NP_001076777	Q56P42	PYDC2_HUMAN	pyrin domain containing 2	5	DAPIN.					cytoplasm|nucleus					0						CATCTTCTGCAGAGCTGGACT	0.448													15	62					0	0	0.007413	0	0
ATP13A5	344905	broad.mit.edu	37	3	192993015	192993015	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:192993015C>T	uc011bsq.1	-	30	3473	c.3473G>A	c.(3472-3474)AGG>AAG	p.R1158K		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	ATPase type 13A5	1158					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(5)|skin(4)|large_intestine(2)	11	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TTGCCAAGTCCTATATTGACT	0.398													35	62					0	0	0.004289	0	0
ATP13A5	344905	broad.mit.edu	37	3	193007718	193007718	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:193007718G>A	uc011bsq.1	-	26	2979	c.2979C>T	c.(2977-2979)CTC>CTT	p.L993L		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	ATPase type 13A5	993	Helical; (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(5)|skin(4)|large_intestine(2)	11	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GCTTCACATAGAGAAATGCAC	0.398													17	45					0	0	0.001523	0	0
ATP13A5	344905	broad.mit.edu	37	3	193071934	193071934	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:193071934C>T	uc011bsq.1	-	6	588	c.588G>A	c.(586-588)TGG>TGA	p.W196*		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	ATPase type 13A5	196					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(5)|skin(4)|large_intestine(2)	11	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CAAGCAGCTTCCATATGGGTT	0.373													24	54					0	0	0.007291	0	0
TNK2	10188	broad.mit.edu	37	3	195609174	195609174	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:195609174G>A	uc003fvu.1	-	6	1178	c.635C>T	c.(634-636)TCG>TTG	p.S212L	TNK2_uc003fvs.1_Missense_Mutation_p.S244L|TNK2_uc003fvt.1_Missense_Mutation_p.S275L|TNK2_uc010hzw.1_RNA|TNK2_uc003fvv.1_Missense_Mutation_p.S42L|TNK2_uc010hzx.1_Missense_Mutation_p.S226L	NM_005781	NP_005772	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2 isoform 1	212	Protein kinase.				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1)	10	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	GTCCAACAACGATCCCAGAGG	0.657													9	27					0	0	0.008291	0	0
TFRC	7037	broad.mit.edu	37	3	195779012	195779012	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:195779012G>A	uc003fvz.3	-	19	2367	c.2084C>T	c.(2083-2085)TCT>TTT	p.S695F	TFRC_uc003fwa.3_Missense_Mutation_p.S695F|TFRC_uc010hzy.2_Missense_Mutation_p.S614F|TFRC_uc011btr.1_Missense_Mutation_p.S413F	NM_003234	NP_003225	P02786	TFR1_HUMAN	transferrin receptor	695	Extracellular (Potential).|Ligand-binding.				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)		TCGGAAAGGAGACTCTTTTGG	0.448			T	BCL6	NHL								14	22					0	0	0.002450	0	0
TFRC	7037	broad.mit.edu	37	3	195794506	195794506	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:195794506G>A	uc003fvz.3	-	9	1206	c.923C>T	c.(922-924)CCT>CTT	p.P308L	TFRC_uc003fwa.3_Missense_Mutation_p.P308L|TFRC_uc010hzy.2_Missense_Mutation_p.P227L|TFRC_uc011btr.1_Missense_Mutation_p.P26L	NM_003234	NP_003225	P02786	TFR1_HUMAN	transferrin receptor	308	Extracellular (Potential).|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			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)		AGGTGTGTAAGGGTCACCTGT	0.453			T	BCL6	NHL								24	48					0	0	0.004656	0	0
SENP5	205564	broad.mit.edu	37	3	196612362	196612362	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:196612362T>C	uc003fwz.3	+	2	559	c.310T>C	c.(310-312)TTC>CTC	p.F104L	SENP5_uc011bty.1_Missense_Mutation_p.F104L	NM_152699	NP_689912	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	104					cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity			breast(2)|lung(1)	3	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		CGCTAAACACTTCATTTCCTC	0.408													19	38					0	0	0.007413	0	0
ZNF876P	642280	broad.mit.edu	37	4	248200	248200	+	RNA	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:248200C>T	uc010iba.2	+	2		c.1034C>T				NR_027481				Homo sapiens cDNA clone IMAGE:4828836.												0						CAAGAGAATTCATACTGGTGA	0.363													5	31					0	0	0.000602	0	0
ZNF721	170960	broad.mit.edu	37	4	435916	435916	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:435916G>A	uc003gag.2	-	3	3031	c.2340C>T	c.(2338-2340)CCC>CCT	p.P780P	ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.1_Intron|ABCA11P_uc003gae.2_Intron|ABCA11P_uc010ibd.1_Intron|ZNF721_uc003gaf.3_Silent_p.P812P|ZNF721_uc010ibe.2_Silent_p.P768P	NM_133474	NP_597731	D9N162	D9N162_HUMAN	zinc finger protein 721	780						intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1						TACATTTGTAGGGTTTCTTTC	0.353													6	21					0	0	0.001168	0	0
FGFRL1	53834	broad.mit.edu	37	4	1018175	1018175	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:1018175C>T	uc003gce.2	+	6	956	c.795C>T	c.(793-795)TCC>TCT	p.S265S	FGFRL1_uc003gcf.2_Silent_p.S265S|FGFRL1_uc003gcg.2_Silent_p.S265S|FGFRL1_uc010ibo.2_Silent_p.S265S	NM_021923	NP_068742	Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	265	Ig-like C2-type 3.|Extracellular (Potential).				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding				0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GGACCACGTCCTTCCAGTGCA	0.672													27	45					0	0	0.002445	0	0
HTT	3064	broad.mit.edu	37	4	3148568	3148568	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:3148568C>T	uc011bvq.1	+	26	3339	c.3194C>T	c.(3193-3195)ACC>ATC	p.T1065I		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	1063					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AAGAGCTGTACCGTTGGGATG	0.463													65	268					0	0	0.003610	0	0
RGS12	6002	broad.mit.edu	37	4	3418713	3418713	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:3418713C>T	uc003ggw.2	+	8	3405	c.2501C>T	c.(2500-2502)GCG>GTG	p.A834V	RGS12_uc010ics.1_Missense_Mutation_p.A33V|RGS12_uc003ggv.2_Missense_Mutation_p.A834V|RGS12_uc003ggy.1_Missense_Mutation_p.A232V|RGS12_uc010ict.1_Missense_Mutation_p.A186V|RGS12_uc003ggz.2_Missense_Mutation_p.A186V|RGS12_uc010icu.1_Missense_Mutation_p.A33V|RGS12_uc011bvs.1_Missense_Mutation_p.A176V|RGS12_uc003gha.2_Missense_Mutation_p.A176V|RGS12_uc010icv.2_Missense_Mutation_p.A33V|RGS12_uc003ghb.2_Missense_Mutation_p.A33V	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	834						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGCATCCTGGCGGAAGTGGAG	0.582													12	59					0	0	0.001368	0	0
CRMP1	1400	broad.mit.edu	37	4	5843134	5843135	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:5843134_5843135GG>AA	uc003gip.2	-	9	812_813	c.711_712CC>TT	c.(709-714)TTCCGG>TTTTGG	p.R238W	CRMP1_uc003gin.1_Missense_Mutation_p.R150W|CRMP1_uc003giq.2_Missense_Mutation_p.R238W|CRMP1_uc003gir.2_Missense_Mutation_p.R233W|CRMP1_uc003gis.2_Missense_Mutation_p.R352W	NM_001313	NP_001304	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1 isoform 2	238					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			ovary(2)	2				Colorectal(103;0.0721)		GTGATGGCCCGGAACACCGCCT	0.559													41	66					0	0	0.004672	0	0
CPZ	8532	broad.mit.edu	37	4	8607895	8607895	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:8607895G>A	uc003glm.2	+	5	1015	c.889G>A	c.(889-891)GAG>AAG	p.E297K	CPZ_uc003gll.2_RNA|CPZ_uc003gln.2_Missense_Mutation_p.E160K|CPZ_uc003glo.2_Missense_Mutation_p.E286K|CPZ_uc003glp.2_RNA	NM_001014447	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z isoform 1	297					proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			ovary(2)|pancreas(1)	3						TGACGGCTATGAGGTGGCAGC	0.607													5	15					0	0	0.001168	0	0
ZNF518B	85460	broad.mit.edu	37	4	10447215	10447215	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:10447215G>A	uc003gmn.2	-	3	1225	c.738C>T	c.(736-738)TCC>TCT	p.S246S		NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	246					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)	4						TCCGTGGATTGGAAGCTTTTA	0.433													68	124					0	0	0.003610	0	0
GBA3	57733	broad.mit.edu	37	4	22749697	22749697	+	Silent	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:22749697A>G	uc003gqp.3	+	3	1156	c.1065A>G	c.(1063-1065)AAA>AAG	p.K355K	GBA3_uc010iep.2_Intron|GBA3_uc011bxo.1_Silent_p.K356K	NM_020973	NP_066024	Q9H227	GBA3_HUMAN	cytosolic beta-glucosidase isoform a	355					glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity				0						GAGTATGTAAACTACTGAAAT	0.358													7	8					0	0	0.003080	0	0
TBC1D1	23216	broad.mit.edu	37	4	38016171	38016171	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:38016171C>T	uc003gtb.2	+	3	802	c.459C>T	c.(457-459)ATC>ATT	p.I153I	TBC1D1_uc011byd.1_Silent_p.I153I|TBC1D1_uc010ifd.2_Intron|TBC1D1_uc011byf.1_Silent_p.I24I	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family,	153						nucleus	Rab GTPase activator activity			ovary(1)	1						CGGGGAAGATCGCCCGGCAGG	0.597													15	82					0	0	0.008871	0	0
TLR1	7096	broad.mit.edu	37	4	38798250	38798250	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:38798250G>A	uc003gtl.2	-	4	2477	c.2203C>T	c.(2203-2205)CCG>TCG	p.P735S		NM_003263	NP_003254	Q15399	TLR1_HUMAN	toll-like receptor 1 precursor	735	Cytoplasmic (Potential).|TIR.				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			lung(2)|skin(2)|prostate(1)	5						GAGTACTGCGGAATGGGTTCC	0.443													21	65					0	0	0.001882	0	0
RBM47	54502	broad.mit.edu	37	4	40427944	40427944	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:40427944G>A	uc003gvc.2	-	7	2469	c.1759C>T	c.(1759-1761)CCC>TCC	p.P587S	RBM47_uc003gvd.2_Missense_Mutation_p.P518S|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Missense_Mutation_p.P549S	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	RNA binding motif protein 47 isoform a	587						nucleus	nucleotide binding|RNA binding			breast(3)	3						TAGACGTCGGGGATGGGGACC	0.552													18	50					0	0	0.008871	0	0
PHOX2B	8929	broad.mit.edu	37	4	41747940	41747940	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:41747940G>A	uc003gwf.3	-	3	1189	c.829C>T	c.(829-831)CCC>TCC	p.P277S		NM_003924	NP_003915	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	277					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			autonomic_ganglia(7)|lung(2)|ovary(2)|central_nervous_system(1)	12						ATGGGGCCGGGGCCGGGAGCC	0.502			Mis|F		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome				11	24					0	0	0.000978	0	0
GRXCR1	389207	broad.mit.edu	37	4	42895296	42895296	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:42895296G>A	uc003gwt.2	+	1	13	c.13G>A	c.(13-15)GAG>AAG	p.E5K		NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	5					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			ovary(1)	1						GCTTAAAAGGGAGATGAAGCC	0.507													22	40					0	0	0.002299	0	0
COMMD8	54951	broad.mit.edu	37	4	47455144	47455144	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:47455144G>A	uc003gxi.2	-	4	471	c.463C>T	c.(463-465)CCT>TCT	p.P155S		NM_017845	NP_060315	Q9NX08	COMD8_HUMAN	COMM domain containing 8	155	COMM.						protein binding				0						ATAGAATAAGGTTTTACTTCA	0.353													28	57					0	0	0.005443	0	0
ATP10D	57205	broad.mit.edu	37	4	47538793	47538793	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:47538793G>A	uc003gxk.1	+	9	1398	c.1234G>A	c.(1234-1236)GAA>AAA	p.E412K	ATP10D_uc003gxl.1_5'UTR|ATP10D_uc003gxj.3_Missense_Mutation_p.E397K	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	412	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3						TTTCTACAATGAAAAAATGGA	0.398													9	39					0	0	0.004482	0	0
CWH43	80157	broad.mit.edu	37	4	49005959	49005959	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:49005959A>G	uc003gyv.2	+	7	1192	c.1010A>G	c.(1009-1011)AAG>AGG	p.K337R	CWH43_uc011bzl.1_Missense_Mutation_p.K310R	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog	337					GPI anchor biosynthetic process	integral to membrane				skin(2)|ovary(1)	3						ACAGCTTTTAAGTTTGTCCCA	0.388													6	30					0	0	0.001984	0	0
USP46	64854	broad.mit.edu	37	4	53494232	53494232	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:53494232C>T	uc003gzn.2	-	3	401	c.216G>A	c.(214-216)AAG>AAA	p.K72K	USP46_uc003gzm.3_Silent_p.K65K|USP46_uc011bzr.1_Silent_p.K49K|USP46_uc011bzs.1_5'UTR	NM_022832	NP_073743	P62068	UBP46_HUMAN	ubiquitin specific peptidase 46 isoform 1	72					behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(1)	1			LUSC - Lung squamous cell carcinoma(32;0.0295)			AGTTTTCCTTCTTCTTTTGCT	0.493													8	18					0	0	0.006214	0	0
REST	5978	broad.mit.edu	37	4	57777066	57777066	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:57777066G>A	uc003hch.2	+	2	609	c.262G>A	c.(262-264)GAA>AAA	p.E88K	REST_uc003hci.2_Missense_Mutation_p.E88K|REST_uc003hcj.1_Missense_Mutation_p.E88K|REST_uc010ihf.2_5'UTR	NM_005612	NP_005603	Q13127	REST_HUMAN	RE1-silencing transcription factor	88	Interaction with SIN3A.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			skin(5)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	9	Glioma(25;0.08)|all_neural(26;0.181)					TTCAGATAGTGAAGAAGGAGA	0.458													15	31					0	0	0.004007	0	0
UGT2B15	7366	broad.mit.edu	37	4	69535817	69535817	+	Nonsense_Mutation	SNP	G	A	A	rs138640811	byFrequency	TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:69535817G>A	uc011cal.1	-	1	558	c.520C>T	c.(520-522)CGA>TGA	p.R174*		NM_001076	NP_001067	P54855	UDB15_HUMAN	UDP glycosyltransferase 2B15 precursor	174				LYSLRFSV -> VYRSRISR (in Ref. 6; AAA83406).	steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity				0						ACAGAGAATCGAAGACTGTAC	0.408													60	215					0	0	0.003610	0	0
UGT2B10	7365	broad.mit.edu	37	4	69693177	69693177	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:69693177G>A	uc003hee.2	+	5	1243	c.1218G>A	c.(1216-1218)AAG>AAA	p.K406K	UGT2B10_uc011cam.1_Silent_p.K322K	NM_001075	NP_001066	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2B10 isoform 1	406					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(3)|ovary(2)	5						CTCACATGAAGGCCAAGGGAG	0.448													25	156					0	0	0.003954	0	0
UGT2B10	7365	broad.mit.edu	37	4	69884041	69884041	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:69884041C>T	uc011cao.1	-	5	808	c.672G>A	c.(670-672)TGG>TGA	p.W224*	UGT2B10_uc011can.1_Nonsense_Mutation_p.W140*			P36537	UDB10_HUMAN	RecName: Full=UDP-glucuronosyltransferase 2B28;          Short=UDPGT 2B28;          EC=2.4.1.17; Flags: Precursor;	261					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(3)|ovary(2)	5						ATTTAAAATTCCAGGAGTTTC	0.393													55	98					0	0	0.003610	0	0
UGT2B7	7364	broad.mit.edu	37	4	69962301	69962301	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:69962301G>A	uc003heg.3	+	1	109	c.63G>A	c.(61-63)GGG>GGA	p.G21G	UGT2B7_uc010ihq.2_Silent_p.G21G	NM_001074	NP_001065	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2B7 precursor	21					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			ovary(1)|skin(1)	2						TTAGCTCTGGGAATTGTGGAA	0.433													45	56					0	0	0.003214	0	0
UGT2B11	10720	broad.mit.edu	37	4	70080196	70080196	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:70080196G>A	uc003heh.2	-	1	254	c.245C>T	c.(244-246)ACT>ATT	p.T82I	uc003hei.1_RNA	NM_001073	NP_001064	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family,	82					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3						TTCAGTTTTAGTTAAAGATGT	0.348													20	88					0	0	0.002299	0	0
UGT2B28	54490	broad.mit.edu	37	4	70160494	70160494	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:70160494T>G	uc003hej.2	+	6	1559	c.1557T>G	c.(1555-1557)TTT>TTG	p.F519L	UGT2B28_uc010ihr.2_3'UTR	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family,	519					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(1)	1					Flunitrazepam(DB01544)	TCTGGAAGTTTGCTAGAAAAG	0.403													9	56					0	0	0.006214	0	0
UGT2A1	10941	broad.mit.edu	37	4	70464963	70464963	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:70464963C>T	uc003hem.3	-	2	927	c.864_splice	c.e2+1	p.K288_splice	UGT2A1_uc011caq.1_Splice_Site_p.K498_splice|UGT2A1_uc010ihu.2_Splice_Site_p.K332_splice|UGT2A1_uc010iht.2_Splice_Site_p.K288_splice|UGT2A1_uc010ihs.2_Splice_Site_p.K289_splice	NM_006798	NP_006789	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family,						detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity|glucuronosyltransferase activity			ovary(1)	1						TGTAGACCTACCTTAGGTAAA	0.343													6	22					0	0	0.001984	0	0
SULT1B1	27284	broad.mit.edu	37	4	70615496	70615496	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:70615496C>T	uc003hen.2	-	4	616	c.318G>A	c.(316-318)GTG>GTA	p.V106V		NM_014465	NP_055280	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member	106					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					0						GATGTGTTTTCACAATCCGGG	0.388													21	72					0	0	0.003330	0	0
SULT1B1	27284	broad.mit.edu	37	4	70620879	70620879	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:70620879G>A	uc003hen.2	-	2	355	c.57C>T	c.(55-57)CCC>CCT	p.P19P		NM_014465	NP_055280	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member	19					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					0						CACAGGTCATGGGATAACCAT	0.373													35	65					0	0	0.003271	0	0
C4orf35	85438	broad.mit.edu	37	4	71200984	71200984	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:71200984A>T	uc003hff.2	+	1	314	c.228A>T	c.(226-228)AAA>AAT	p.K76N		NM_033122	NP_149113	Q96KC9	CABS1_HUMAN	testis development protein NYD-SP26	76						flagellum	calcium ion binding				0		all_hematologic(202;0.196)				AAAAACTCAAATCAGAAGATG	0.378													31	50					0	0	0.008361	0	0
ENAM	10117	broad.mit.edu	37	4	71508967	71508967	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:71508967C>T	uc011caw.1	+	9	2105	c.1824C>T	c.(1822-1824)CCC>CCT	p.P608P		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	enamelin precursor	608					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			ovary(3)	3			Lung(101;0.235)			CATATGATCCCAGGGAAAACT	0.428													31	118					0	0	0.002836	0	0
PPEF2	5470	broad.mit.edu	37	4	76781931	76781931	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:76781931G>A	uc003hix.2	-	17	2508	c.2151C>T	c.(2149-2151)TTC>TTT	p.F717F	PPEF2_uc003hiy.2_RNA	NM_006239	NP_006230	O14830	PPE2_HUMAN	serine/threonine protein phosphatase with	717	EF-hand 3.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			ovary(2)|lung(1)|central_nervous_system(1)	4			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AGGCCTCCAGGAACTCATTGA	0.493													6	29					0	0	0.001984	0	0
NUP54	53371	broad.mit.edu	37	4	77036570	77036570	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:77036570G>A	uc003hjs.2	-	12	1601	c.1473C>T	c.(1471-1473)GTC>GTT	p.V491V	NUP54_uc010ije.2_Silent_p.V209V|NUP54_uc011cbs.1_Silent_p.V311V|NUP54_uc011cbt.1_Silent_p.V443V|NUP54_uc003hjt.2_Silent_p.V275V	NM_017426	NP_059122	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	491					carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm				ovary(1)|lung(1)	2						ATCCATGTTCGACCAGCTTTA	0.368													19	36					0	0	0.008871	0	0
SHROOM3	57619	broad.mit.edu	37	4	77691934	77691934	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:77691934G>A	uc011cbx.1	+	10	6458	c.5505G>A	c.(5503-5505)AGG>AGA	p.R1835R	SHROOM3_uc003hkg.2_Silent_p.R1613R	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	shroom family member 3 protein	1835	ASD2.				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			skin(2)|ovary(1)	3			Lung(101;0.0903)			ACAAGTATAGGATGTTCATAG	0.552													36	71					0	0	0.005524	0	0
ANKRD56	345079	broad.mit.edu	37	4	77816851	77816852	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:77816851_77816852CC>TT	uc003hki.2	-	1	2151_2152	c.2151_2152GG>AA	c.(2149-2154)GGGGAA>GGAAAA	p.E718K		NM_001029870	NP_001025041	A6NEL2	ANR56_HUMAN	ankyrin repeat domain 56	718											0						TGCCATATTTCCCCAGAGGTAT	0.51													59	133					0	0	0.004672	0	0
MRPL1	65008	broad.mit.edu	37	4	78815335	78815335	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:78815335C>T	uc003hku.2	+	6	799	c.601C>T	c.(601-603)CCA>TCA	p.P201S	MRPL1_uc010iji.1_Missense_Mutation_p.P124S	NM_020236	NP_064621	Q9BYD6	RM01_HUMAN	mitochondrial ribosomal protein L1 precursor	201							RNA binding				0						CGTAGCTGTTCCAGAAATAAT	0.318													44	189					0	0	0.003610	0	0
NAA11	84779	broad.mit.edu	37	4	80246511	80246511	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:80246511G>A	uc003hlt.3	-	1	661	c.521C>T	c.(520-522)TCC>TTC	p.S174F		NM_032693	NP_116082	Q9BSU3	NAA11_HUMAN	alpha-N-acetyltransferase 1B	174						cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			ovary(1)|central_nervous_system(1)	2						GTTCTCCCTGGAGCCCAGGAC	0.547													4	12					0	0	0.000248	0	0
BMP3	651	broad.mit.edu	37	4	81967122	81967122	+	Silent	SNP	C	T	T	rs147415195		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:81967122C>T	uc003hmg.3	+	2	867	c.547C>T	c.(547-549)CTG>TTG	p.L183L		NM_001201	NP_001192	P12645	BMP3_HUMAN	bone morphogenetic protein 3 preproprotein	183					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			ovary(4)|central_nervous_system(1)	5						CCTTGGCCATCTGTCAGTGGA	0.438													44	170					0	0	0.003610	0	0
CDS1	1040	broad.mit.edu	37	4	85564200	85564200	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:85564200C>T	uc011ccv.1	+	11	1554	c.1056C>T	c.(1054-1056)TTC>TTT	p.F352F	CDS1_uc010ike.1_Intron	NM_001263	NP_001254	Q92903	CDS1_HUMAN	CDP-diacylglycerol synthase 1	352					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			large_intestine(2)|ovary(1)|breast(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		TGTACCCTTTCCAGATCCACA	0.428													29	152					0	0	0.008361	0	0
WDFY3	23001	broad.mit.edu	37	4	85694049	85694049	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:85694049G>A	uc003hpd.2	-	30	5196	c.4788C>T	c.(4786-4788)ACC>ACT	p.T1596T		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	1596						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AAACCGCAAAGGTTGGCAAAG	0.348													5	25					0	0	0.000602	0	0
MMRN1	22915	broad.mit.edu	37	4	90857243	90857243	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:90857243G>A	uc003hst.2	+	6	2483	c.2412G>A	c.(2410-2412)AAG>AAA	p.K804K	MMRN1_uc010iku.2_Intron|MMRN1_uc011cds.1_Silent_p.K546K	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	multimerin 1	804					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				ovary(4)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		AAGTCGCCAAGACCCTTGCAG	0.378													13	47					0	0	0.003163	0	0
GRID2	2895	broad.mit.edu	37	4	93225819	93225819	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:93225819C>T	uc011cdt.1	+	1	270	c.12C>T	c.(10-12)TTC>TTT	p.F4F	GRID2_uc010ikx.2_Silent_p.F4F|GRID2_uc011cdu.1_Silent_p.F4F	NM_001510	NP_001501	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	4					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(3)|skin(2)|large_intestine(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TGGAAGTTTTCCCCTTTCTCT	0.468													13	52					0	0	0.003163	0	0
PDLIM5	10611	broad.mit.edu	37	4	95585166	95585166	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:95585166C>T	uc003hti.2	+	13	1890	c.1739C>T	c.(1738-1740)TCC>TTC	p.S580F	PDLIM5_uc011cdx.1_Missense_Mutation_p.S477F|PDLIM5_uc003hth.2_Missense_Mutation_p.S471F|PDLIM5_uc003htj.2_Missense_Mutation_p.S255F|PDLIM5_uc003htk.2_Missense_Mutation_p.S609F|PDLIM5_uc011cdy.1_Missense_Mutation_p.S458F|PDLIM5_uc003htl.2_Missense_Mutation_p.S255F	NM_006457	NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5 isoform a	580	LIM zinc-binding 3.				regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			ovary(1)|skin(1)	2		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		ACCTTTTTCTCCAAGAAGGAC	0.363													8	65					0	0	0.006214	0	0
C4orf37	285555	broad.mit.edu	37	4	98902414	98902414	+	Missense_Mutation	SNP	C	T	T	rs150708038		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:98902414C>T	uc003htt.1	-	6	758	c.668G>A	c.(667-669)CGA>CAA	p.R223Q		NM_174952	NP_777612	Q8N412	CD037_HUMAN	hypothetical protein LOC285555	223											0				OV - Ovarian serous cystadenocarcinoma(123;2.27e-08)		GAGAGCAGTTCGAGGTTCATT	0.388													16	63					0	0	0.004007	0	0
ADH6	130	broad.mit.edu	37	4	100129951	100129951	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:100129951C>T	uc003hup.3	-	6	796	c.702G>A	c.(700-702)CAG>CAA	p.Q234Q	uc003hum.1_Intron|ADH6_uc003huo.2_Silent_p.Q234Q|ADH6_uc011cef.1_Silent_p.Q25Q|ADH6_uc010ile.2_Silent_p.Q234Q	NM_000672	NP_000663	P28332	ADH6_HUMAN	class V alcohol dehydrogenase isoform 2	234					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			ovary(1)|kidney(1)|skin(1)	3				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	CACCCAATTCCTGTGCCTTCT	0.453													91	220					0	0	0.003610	0	0
ADH1B	125	broad.mit.edu	37	4	100229018	100229018	+	Silent	SNP	G	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:100229018G>T	uc003hus.3	-	9	1191	c.1107C>A	c.(1105-1107)ATC>ATA	p.I369I	ADH1A_uc011ceg.1_Intron|ADH1B_uc003hut.3_Silent_p.I329I|ADH1B_uc011ceh.1_Silent_p.I214I	NM_000668	NP_000659	P00325	ADH1B_HUMAN	class I alcohol dehydrogenase, beta subunit	369					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			ovary(1)|breast(1)	2				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	GGACGGTACGGATACTGCAAT	0.453													10	35					6.40141e-05	8.28735e-05	0.000978	1	0
NFKB1	4790	broad.mit.edu	37	4	103459029	103459029	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:103459029C>T	uc011ceq.1	+	5	638	c.171C>T	c.(169-171)TTC>TTT	p.F57F	NFKB1_uc011cep.1_Silent_p.F58F	NM_003998	NP_003989	P19838	NFKB1_HUMAN	nuclear factor kappa-B, subunit 1 isoform 1	57	RHD.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(2)|breast(2)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	GATTTCGTTTCCGTTATGTAT	0.388													16	70					0	0	0.006122	0	0
CENPE	1062	broad.mit.edu	37	4	104080310	104080310	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:104080310G>C	uc003hxb.1	-	22	2548	c.2458C>G	c.(2458-2460)CAA>GAA	p.Q820E	CENPE_uc003hxc.1_Missense_Mutation_p.Q795E	NM_001813	NP_001804	Q02224	CENPE_HUMAN	centromere protein E	820	Potential.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			ovary(5)|breast(4)	9				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTGAAATTTTGGAATTCTTGA	0.343													24	49					0	0	0.003954	0	0
EGF	1950	broad.mit.edu	37	4	110932359	110932359	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:110932359G>A	uc003hzy.3	+	24	3824	c.3372G>A	c.(3370-3372)GGG>GGA	p.G1124G	EGF_uc011cfu.1_Silent_p.G1082G|EGF_uc011cfv.1_Silent_p.G1083G|EGF_uc010imk.2_Missense_Mutation_p.G246D	NM_001963	NP_001954	P01133	EGF_HUMAN	epidermal growth factor precursor	1124	Cytoplasmic (Potential).				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	TTCATATAGGGTCAATGCAAC	0.438													13	26					0	0	0.001855	0	0
ANK2	287	broad.mit.edu	37	4	114264272	114264272	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:114264272G>A	uc003ibe.3	+	34	4322	c.4222G>A	c.(4222-4224)GAA>AAA	p.E1408K	ANK2_uc003ibd.3_Missense_Mutation_p.E1399K|ANK2_uc003ibf.3_Missense_Mutation_p.E1408K|ANK2_uc011cgc.1_Missense_Mutation_p.E584K|ANK2_uc003ibg.3_Missense_Mutation_p.E403K|ANK2_uc003ibh.3_Missense_Mutation_p.E82K|ANK2_uc011cgb.1_Missense_Mutation_p.E1423K	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	1375					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)		TGCCTTCAAAGAAAATAGACT	0.338													8	36					0	0	0.006214	0	0
SEC24D	9871	broad.mit.edu	37	4	119665155	119665155	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:119665155G>T	uc003ici.3	-	15	2255	c.1983C>A	c.(1981-1983)TAC>TAA	p.Y661*	SEC24D_uc003ich.3_RNA|SEC24D_uc003icj.3_Nonsense_Mutation_p.Y662*|SEC24D_uc003icl.2_RNA	NM_014822	NP_055637	O94855	SC24D_HUMAN	Sec24-related protein D	661					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding				0						GGAAATTGTTGTATTTGTAAA	0.443													14	22					3.27435e-08	4.25774e-08	0.002450	1	0
C4orf31	79625	broad.mit.edu	37	4	121958041	121958041	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:121958041A>C	uc003idq.1	-	4	1612	c.1085T>G	c.(1084-1086)TTT>TGT	p.F362C		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	hypothetical protein LOC79625 precursor	362											0						AAACCGTAGAAACTTTGCTCC	0.428													30	52					0	0	0.008361	0	0
KIAA1109	84162	broad.mit.edu	37	4	123277108	123277108	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:123277108C>T	uc003ieh.2	+	81	14508	c.14463C>T	c.(14461-14463)TCC>TCT	p.S4821S	KIAA1109_uc003iem.2_Silent_p.S1177S	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	4821					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						ACTTTAAATCCATTCATGTTC	0.363													27	50					0	0	0.001786	0	0
SPATA5	166378	broad.mit.edu	37	4	123855400	123855400	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:123855400C>T	uc003iez.3	+	5	727	c.654C>T	c.(652-654)GCC>GCT	p.A218A	SPATA5_uc003iey.2_Silent_p.A217A	NM_145207	NP_660208	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	218					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity				0						AAAGAATGGCCTTTGAACAGT	0.498													22	41					0	0	0.002780	0	0
INTU	27152	broad.mit.edu	37	4	128564854	128564854	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:128564854C>T	uc003ifk.1	+	2	395	c.325C>T	c.(325-327)CCC>TCC	p.P109S	INTU_uc011cgq.1_RNA	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	PDZ domain containing 6	109										ovary(1)	1						AAAGTATGAACCCAAACTCAA	0.363													45	63					0	0	0.002222	0	0
PCDH18	54510	broad.mit.edu	37	4	138442299	138442299	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:138442299C>T	uc003ihe.3	-	4	3679	c.3292G>A	c.(3292-3294)GAA>AAA	p.E1098K	PCDH18_uc003ihf.3_Missense_Mutation_p.E1090K|PCDH18_uc011cgz.1_Missense_Mutation_p.E309K|PCDH18_uc003ihg.3_Missense_Mutation_p.E877K|PCDH18_uc011cha.1_Missense_Mutation_p.E278K	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	1098	Interaction with DAB1 (By similarity).|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)					AAATCATCTTCCTCATAATTT	0.488													10	36					0	0	0.006214	0	0
PCDH18	54510	broad.mit.edu	37	4	138451129	138451129	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:138451129G>A	uc003ihe.3	-	1	2501	c.2114C>T	c.(2113-2115)TCC>TTC	p.S705F	PCDH18_uc003ihf.3_Missense_Mutation_p.S698F|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Missense_Mutation_p.S485F|PCDH18_uc011cha.1_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	705	Helical; (Potential).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			pancreas(3)|skin(2)	5	all_hematologic(180;0.24)					TGCTCCTAAGGAAATAATTAT	0.423													18	82					0	0	0.007413	0	0
PCDH18	54510	broad.mit.edu	37	4	138452154	138452154	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:138452154T>A	uc003ihe.3	-	1	1476	c.1089A>T	c.(1087-1089)AAA>AAT	p.K363N	PCDH18_uc003ihf.3_Missense_Mutation_p.K356N|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Missense_Mutation_p.K143N|PCDH18_uc011cha.1_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	363	Cadherin 4.|Extracellular (Potential).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			pancreas(3)|skin(2)	5	all_hematologic(180;0.24)					ATATTTCTTCTTTTCCAGGGG	0.358													12	22					0	0	0.001368	0	0
PCDH18	54510	broad.mit.edu	37	4	138453173	138453173	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:138453173C>T	uc003ihe.3	-	1	457	c.70G>A	c.(70-72)GAT>AAT	p.D24N	PCDH18_uc003ihf.3_Missense_Mutation_p.D17N|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Intron|PCDH18_uc011cha.1_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	24					brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			pancreas(3)|skin(2)	5	all_hematologic(180;0.24)					CCCAGTACATCGTGGTTGAAA	0.383													39	55					0	0	0.008740	0	0
RNF150	57484	broad.mit.edu	37	4	141889002	141889002	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:141889002C>T	uc003iio.1	-	2	1164	c.510G>A	c.(508-510)ATG>ATA	p.M170I	RNF150_uc010iok.1_Missense_Mutation_p.M170I|RNF150_uc003iip.1_Missense_Mutation_p.M170I	NM_020724	NP_065775	Q9ULK6	RN150_HUMAN	ring finger protein 150 precursor	170	Extracellular (Potential).|PA.					integral to membrane	zinc ion binding			ovary(1)	1	all_hematologic(180;0.162)					GCTCAGGAATCATTATGGCCA	0.478													34	74					0	0	0.003271	0	0
GYPB	2994	broad.mit.edu	37	4	144922363	144922363	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:144922363C>T	uc003ijm.1	-	2	167	c.111G>A	c.(109-111)AAG>AAA	p.K37K	GYPA_uc003ijn.2_Intron|GYPB_uc011chs.1_RNA|GYPB_uc011cht.1_RNA|GYPB_uc011chu.1_RNA|GYPB_uc010ioo.1_RNA|GYPB_uc010iop.2_RNA|GYPB_uc011chv.1_Intron|GYPB_uc011chw.1_Intron|GYPB_uc011chx.1_Intron|GYPB_uc011chy.1_RNA|GYPB_uc011chz.1_RNA	NM_002100	NP_002091	P06028	GLPB_HUMAN	glycophorin B precursor	37	Extracellular (Potential).					integral to plasma membrane					0	all_hematologic(180;0.158)					AGATGTAACTCTTTGTGACTG	0.368													20	119					0	0	0.002780	0	0
GYPA	2993	broad.mit.edu	37	4	145035844	145035844	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:145035844G>T	uc003ijo.3	-	6	550	c.434C>A	c.(433-435)CCA>CAA	p.P145Q	GYPA_uc003ijn.2_Intron|GYPA_uc011cia.1_RNA|GYPA_uc011cib.1_Missense_Mutation_p.P112Q|GYPA_uc003ijp.3_Missense_Mutation_p.P113Q|GYPA_uc010ioq.2_Missense_Mutation_p.P132Q|GYPA_uc010ior.2_Missense_Mutation_p.P80Q|GYPA_uc010ios.1_RNA	NM_002099	NP_002090	P02724	GLPA_HUMAN	glycophorin A precursor	145	Cytoplasmic.				interspecies interaction between organisms	membrane fraction	receptor activity			central_nervous_system(2)	2	all_hematologic(180;0.15)					ACACCAACCTGGATTTTCTAT	0.373													5	24					0.000602214	0.000777924	0.000602	1	0
ZNF827	152485	broad.mit.edu	37	4	146824293	146824293	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:146824293G>A	uc003ikn.2	-	2	166	c.118C>T	c.(118-120)CCG>TCG	p.P40S	ZNF827_uc003ikm.2_Missense_Mutation_p.P40S|ZNF827_uc010iox.2_Intron	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	zinc finger protein 827	40					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_hematologic(180;0.151)					GCTTCTGACGGAGTCTCTGAA	0.527													25	61					0	0	0.002096	0	0
NR3C2	4306	broad.mit.edu	37	4	149356726	149356726	+	Silent	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:149356726T>C	uc003ilj.3	-	2	1621	c.1287A>G	c.(1285-1287)CAA>CAG	p.Q429Q	NR3C2_uc003ilk.3_Silent_p.Q429Q|NR3C2_uc010iph.2_RNA	NM_000901	NP_000892	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	429	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			large_intestine(1)	1	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	TGGTTGATTCTTGCTTTATTG	0.383													35	44					0	0	0.003755	0	0
DCHS2	54798	broad.mit.edu	37	4	155155969	155155970	+	Missense_Mutation	DNP	GG	AA	AA	rs145080105	byFrequency	TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:155155969_155155970GG>AA	uc003inw.2	-	25	8469_8470	c.8469_8470CC>TT	c.(8467-8472)CCCCCT>CCTTCT	p.P2824S		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	2824					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GTTATCAAAGGGGGTGGAAAAA	0.465													30	82					0	0	0.004672	0	0
DCHS2	54798	broad.mit.edu	37	4	155156309	155156309	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:155156309C>T	uc003inw.2	-	25	8130	c.8130G>A	c.(8128-8130)GGG>GGA	p.G2710G		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	2710					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GATCTCCTTCCCCAAATGTTT	0.532													12	36					0	0	0.001368	0	0
RBM46	166863	broad.mit.edu	37	4	155718035	155718035	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:155718035A>T	uc003ioo.2	+	2	304	c.131A>T	c.(130-132)AAA>ATA	p.K44I	RBM46_uc011cim.1_Missense_Mutation_p.K44I|RBM46_uc003iop.1_Missense_Mutation_p.K44I	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	44							nucleotide binding|RNA binding			central_nervous_system(1)|skin(1)	2	all_hematologic(180;0.24)	Renal(120;0.0854)				GGACAAAGGAAATTTGGCGGT	0.393													7	49					0	0	0.003080	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156651206	156651206	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:156651206C>T	uc003iov.2	+	11	2432	c.1896C>T	c.(1894-1896)TTC>TTT	p.F632F	GUCY1A3_uc003iow.2_Silent_p.F632F|GUCY1A3_uc010iqd.2_Silent_p.F631F|GUCY1A3_uc003iox.2_Silent_p.F632F|GUCY1A3_uc003ioz.2_Silent_p.F397F|GUCY1A3_uc003ioy.2_Silent_p.F632F|GUCY1A3_uc010iqe.2_Silent_p.F397F|GUCY1A3_uc003ipa.2_RNA|GUCY1A3_uc003ipb.2_Silent_p.F632F	NM_000856	NP_000847	Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3 isoform A	632					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(2)|ovary(1)|skin(1)	4	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GTCCTGGTTTCGTGTTTACCC	0.378													11	49					0	0	0.008291	0	0
GRIA2	2891	broad.mit.edu	37	4	158224878	158224878	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:158224878C>T	uc003ipm.3	+	3	863	c.404C>T	c.(403-405)GCT>GTT	p.A135V	GRIA2_uc011cit.1_Missense_Mutation_p.A88V|GRIA2_uc003ipl.3_Missense_Mutation_p.A135V|GRIA2_uc003ipk.3_Missense_Mutation_p.A88V|GRIA2_uc010iqh.1_RNA	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	135	Extracellular (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|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			central_nervous_system(3)|ovary(1)	4	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	CTCAAAGGAGCTCTCCTTAGC	0.458													21	110					0	0	0.003330	0	0
FSTL5	56884	broad.mit.edu	37	4	162402309	162402309	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:162402309G>A	uc003iqh.2	-	13	1907	c.1471C>T	c.(1471-1473)CCC>TCC	p.P491S	FSTL5_uc003iqi.2_Missense_Mutation_p.P490S|FSTL5_uc010iqv.2_Missense_Mutation_p.P481S	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	491						extracellular region	calcium ion binding			ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TCAGCTTTGGGACAGACTTCA	0.368													23	139					0	0	0.006320	0	0
FSTL5	56884	broad.mit.edu	37	4	162841791	162841791	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:162841791C>T	uc003iqh.2	-	4	610	c.174G>A	c.(172-174)CAG>CAA	p.Q58Q	FSTL5_uc003iqi.2_Silent_p.Q57Q|FSTL5_uc010iqv.2_Silent_p.Q57Q	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	58						extracellular region	calcium ion binding			ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		AAGGGCCATCCTGAATCATAA	0.368													7	29					0	0	0.003080	0	0
CPE	1363	broad.mit.edu	37	4	166405617	166405617	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:166405617C>T	uc003irg.3	+	5	1111	c.834C>T	c.(832-834)TTC>TTT	p.F278F		NM_001873	NP_001864	P16870	CBPE_HUMAN	carboxypeptidase E preproprotein	278					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ACGCCATTTTCCAAAGCTTGG	0.493													89	152					0	0	0.003610	0	0
TLL1	7092	broad.mit.edu	37	4	166924680	166924680	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:166924680G>A	uc003irh.1	+	6	1417	c.770G>A	c.(769-771)CGA>CAA	p.R257Q	TLL1_uc011cjn.1_Missense_Mutation_p.R257Q|TLL1_uc011cjo.1_Missense_Mutation_p.R81Q	NM_012464	NP_036596	O43897	TLL1_HUMAN	tolloid-like 1 precursor	257	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AGACCAGATCGAGATAACCAC	0.408													15	25					0	0	0.004990	0	0
SPOCK3	50859	broad.mit.edu	37	4	167810364	167810364	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:167810364C>T	uc003iri.1	-	7	656	c.515G>A	c.(514-516)GGA>GAA	p.G172E	SPOCK3_uc011cjp.1_Missense_Mutation_p.G169E|SPOCK3_uc011cjq.1_Missense_Mutation_p.G181E|SPOCK3_uc011cjr.1_Missense_Mutation_p.G52E|SPOCK3_uc003irj.1_Missense_Mutation_p.G169E|SPOCK3_uc011cjs.1_Missense_Mutation_p.G121E|SPOCK3_uc011cjt.1_Missense_Mutation_p.G80E|SPOCK3_uc011cju.1_Missense_Mutation_p.G65E|SPOCK3_uc011cjv.1_Missense_Mutation_p.G74E|SPOCK3_uc003irk.3_Missense_Mutation_p.G169E|SPOCK3_uc011cjw.1_RNA	NM_016950	NP_058646	Q9BQ16	TICN3_HUMAN	testican 3 isoform 2	172	Kazal-like.				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		GATCTGTTTTCCTAAGACACA	0.328													18	79					0	0	0.008871	0	0
DDX60	55601	broad.mit.edu	37	4	169167646	169167646	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:169167646G>A	uc003irp.2	-	30	4379	c.4087C>T	c.(4087-4089)CCT>TCT	p.P1363S		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1363	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		ATGCTGAGAGGGAAGTGTCCT	0.488													16	30					0	0	0.004007	0	0
DDX60	55601	broad.mit.edu	37	4	169173784	169173784	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:169173784G>A	uc003irp.2	-	27	3873	c.3581C>T	c.(3580-3582)ACC>ATC	p.T1194I		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1194							ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		CACATTTCTGGTTTTTTTCTG	0.284													24	118					0	0	0.004656	0	0
AADAT	51166	broad.mit.edu	37	4	171009684	171009684	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:171009684C>T	uc003isr.2	-	2	441	c.99G>A	c.(97-99)ATG>ATA	p.M33I	AADAT_uc003iss.2_Missense_Mutation_p.M33I|AADAT_uc003ist.2_Missense_Mutation_p.M37I	NM_016228	NP_057312	Q8N5Z0	AADAT_HUMAN	kynurenine aminotransferase II	33					2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process	mitochondrial matrix	2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity				0		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CCAAGGAGATCATCGATTTTG	0.388													28	51					0	0	0.002096	0	0
GALNTL6	442117	broad.mit.edu	37	4	173930333	173930333	+	Missense_Mutation	SNP	G	A	A	rs146923140		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:173930333G>A	uc003isv.2	+	11	2112	c.1376G>A	c.(1375-1377)CGA>CAA	p.R459Q		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	N-acetylgalactosaminyltransferase-like 6	459	Ricin B-type lectin.|Lumenal (Potential).					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|ovary(1)|skin(1)	4						CCACAGATCCGAAATGTGGCA	0.443													25	68					0	0	0.007291	0	0
ADAM29	11086	broad.mit.edu	37	4	175897017	175897017	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:175897017T>A	uc003iuc.2	+	5	1011	c.341T>A	c.(340-342)GTT>GAT	p.V114D	ADAM29_uc003iud.2_Missense_Mutation_p.V114D|ADAM29_uc010irr.2_Missense_Mutation_p.V114D|ADAM29_uc011cki.1_Missense_Mutation_p.V114D	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29 preproprotein	114					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GAATCCCTGGTTTCCCTCAGT	0.438													13	45					0	0	0.003163	0	0
ODZ3	55714	broad.mit.edu	37	4	183600818	183600819	+	Splice_Site	DNP	GT	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:183600818_183600819GT>AA	uc003ivd.1	+	7	1364	c.1327_splice	c.e7-1	p.Y443_splice	ODZ3_uc003ive.1_5'Flank	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3						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)		CCTCCCCCCAGTATGACTTCGT	0.52													19	46					0	0	0.004672	0	0
ODZ3	55714	broad.mit.edu	37	4	183714622	183714622	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:183714622C>T	uc003ivd.1	+	25	6834	c.6797C>T	c.(6796-6798)TCG>TTG	p.S2266L		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	2266	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)		TACAACCATTCGAGTTCAGAA	0.413													8	31					0	0	0.003080	0	0
CCDC110	256309	broad.mit.edu	37	4	186381105	186381105	+	Missense_Mutation	SNP	C	A	A	rs142282326		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:186381105C>A	uc003ixu.3	-	6	712	c.636G>T	c.(634-636)ATG>ATT	p.M212I	CCDC110_uc003ixv.3_Missense_Mutation_p.M175I|CCDC110_uc011ckt.1_Missense_Mutation_p.M212I	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110 isoform a	212						nucleus				central_nervous_system(1)	1		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		CAGCTTGAGACATCACATTTG	0.318													17	21					3.32936e-07	4.32291e-07	0.006122	1	0
F11	2160	broad.mit.edu	37	4	187205281	187205281	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:187205281G>A	uc003iza.1	+	11	1504	c.1171G>A	c.(1171-1173)GGA>AGA	p.G391R		NM_000128	NP_000119	P03951	FA11_HUMAN	coagulation factor XI precursor	391	Peptidase S1.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity				0		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	GATCGTTGGAGGAACTGCGTC	0.517													31	68					0	0	0.003755	0	0
FAT1	2195	broad.mit.edu	37	4	187517822	187517822	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:187517822G>A	uc003izf.2	-	25	13060	c.12872C>T	c.(12871-12873)TCT>TTT	p.S4291F	FAT1_uc010isn.2_5'Flank|FAT1_uc003ize.2_Missense_Mutation_p.S182F	NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	4291	Cytoplasmic (Potential).				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						CCCGTGCACAGACTCGGGGTT	0.557										HNSCC(5;0.00058)			12	11					0	0	0.000978	0	0
SLC12A7	10723	broad.mit.edu	37	5	1076865	1076865	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:1076865G>A	uc003jbu.2	-	13	1758	c.1692C>T	c.(1690-1692)ATC>ATT	p.I564I		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride	564	Helical; (Potential).				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			skin(2)|large_intestine(1)|ovary(1)	4	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	CAGTCTCGCAGATGAGGACTG	0.652													10	20					0	0	0.001368	0	0
TERT	7015	broad.mit.edu	37	5	1264578	1264578	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:1264578G>A	uc003jcb.1	-	11	2842	c.2784C>T	c.(2782-2784)TTC>TTT	p.F928F	TERT_uc003jbz.1_Silent_p.F124F|TERT_uc003jca.1_Silent_p.F916F|TERT_uc003jcc.1_Intron|TERT_uc003jcd.1_Intron|TERT_uc003jce.1_Intron	NM_198253	NP_937983	O14746	TERT_HUMAN	telomerase reverse transcriptase isoform 1	928	Required for oligomerization.|Reverse transcriptase.				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)			CGCACCAGGGGAATAGGCCGT	0.647									TERT_Mutation-Associated_Haematological_Disorders|Congenital_Dyskeratosis|Pulmonary_Fibrosis_Idiopathic				12	19					0	0	0.001855	0	0
TERT	7015	broad.mit.edu	37	5	1278771	1278771	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:1278771C>T	uc003jcb.1	-	6	2329	c.2271G>A	c.(2269-2271)AAG>AAA	p.K757K	TERT_uc003jbz.1_Missense_Mutation_p.R14K|TERT_uc003jca.1_Silent_p.K745K|TERT_uc003jcc.1_Silent_p.K757K|TERT_uc003jcd.1_RNA|TERT_uc003jce.1_RNA	NM_198253	NP_937983	O14746	TERT_HUMAN	telomerase reverse transcriptase isoform 1	757	Reverse transcriptase.				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)			TCTTGAAGGCCTTGCGGACGT	0.567									TERT_Mutation-Associated_Haematological_Disorders|Congenital_Dyskeratosis|Pulmonary_Fibrosis_Idiopathic				80	183					0	0	0.003610	0	0
SLC6A3	6531	broad.mit.edu	37	5	1441518	1441518	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:1441518C>T	uc003jck.2	-	3	495	c.374G>A	c.(373-375)AGG>AAG	p.R125K		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter	125					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)	GGCCCCTTCCCTGTTGAACTG	0.597													12	34					0	0	0.001368	0	0
SEMA5A	9037	broad.mit.edu	37	5	9051999	9051999	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:9051999G>A	uc003jek.2	-	20	3543	c.2831C>T	c.(2830-2832)TCT>TTT	p.S944F		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	944	Extracellular (Potential).|TSP type-1 7.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						GATGAAATTAGAGTCAAACAC	0.498													15	37					0	0	0.003163	0	0
TAS2R1	50834	broad.mit.edu	37	5	9630016	9630016	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:9630016C>T	uc003jem.1	-	1	448	c.129G>A	c.(127-129)CCG>CCA	p.P43P		NM_019599	NP_062545	Q9NYW7	TA2R1_HUMAN	taste receptor T2R1	43	Cytoplasmic (Potential).				chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			ovary(3)	3						GGAGATCCAGCGGAGCCATTT	0.378													13	44					0	0	0.003163	0	0
ROPN1L	83853	broad.mit.edu	37	5	10461368	10461368	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:10461368C>T	uc003jex.3	+	4	761	c.490C>T	c.(490-492)CCC>TCC	p.P164S		NM_031916	NP_114122	Q96C74	ROP1L_HUMAN	ropporin 1-like	164					ciliary or flagellar motility|signal transduction	cytoplasm|motile cilium	cAMP-dependent protein kinase regulator activity|protein binding			ovary(1)	1						CGCTCGCATCCCCTTCAAGAC	0.567													20	75					0	0	0.002299	0	0
DAP	1611	broad.mit.edu	37	5	10683671	10683671	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:10683671G>A	uc003jez.3	-	3	372	c.165C>T	c.(163-165)CCC>CCT	p.P55P	DAP_uc011cmw.1_Intron	NM_004394	NP_004385	P51397	DAP1_HUMAN	death-associated protein	55					activation of caspase activity|cellular response to amino acid starvation|induction of apoptosis by extracellular signals|negative regulation of autophagy|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent		death domain binding				0		Ovarian(839;1.34e-05)|Breast(839;0.0634)|Lung NSC(810;0.0804)				TGAACACAGTGGGTTTAGGTG	0.512													20	45					0	0	0.001882	0	0
CTNND2	1501	broad.mit.edu	37	5	11159783	11159783	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:11159783G>A	uc003jfa.1	-	12	2209	c.2064C>T	c.(2062-2064)ATC>ATT	p.I688I	CTNND2_uc010itt.2_Silent_p.I597I|CTNND2_uc011cmy.1_Silent_p.I351I|CTNND2_uc011cmz.1_Silent_p.I255I|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Silent_p.I255I	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	688	ARM 5.				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						CTGAGTGGGGGATAATCACCG	0.527													29	87					0	0	0.002096	0	0
DNAH5	1767	broad.mit.edu	37	5	13777418	13777418	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:13777418G>A	uc003jfd.2	-	54	9040	c.8998C>T	c.(8998-9000)CGA>TGA	p.R3000*		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3000	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					CCAGCTGTTCGATACAAAACC	0.313									Kartagener_syndrome				20	42					0	0	0.001523	0	0
DNAH5	1767	broad.mit.edu	37	5	13781029	13781029	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:13781029G>A	uc003jfd.2	-	53	8902	c.8860C>T	c.(8860-8862)CTG>TTG	p.L2954L		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2954	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					ACCCCGACCAGGAGGGCATTT	0.463									Kartagener_syndrome				12	31					0	0	0.002450	0	0
DNAH5	1767	broad.mit.edu	37	5	13841134	13841134	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:13841134G>A	uc003jfd.2	-	34	5632	c.5590C>T	c.(5590-5592)CTG>TTG	p.L1864L		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1864	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					AGTAGCTCCAGGAAAGCCTGA	0.403									Kartagener_syndrome				27	49					0	0	0.005443	0	0
DNAH5	1767	broad.mit.edu	37	5	13901467	13901467	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:13901467G>A	uc003jfd.2	-	14	1988	c.1946C>T	c.(1945-1947)GCT>GTT	p.A649V		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	649	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					GCTTAGCACAGCTGGGTGCTG	0.557									Kartagener_syndrome				8	29					0	0	0.004482	0	0
TRIO	7204	broad.mit.edu	37	5	14507328	14507328	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:14507328C>T	uc003jff.2	+	56	8716	c.8710C>T	c.(8710-8712)CGG>TGG	p.R2904W	TRIO_uc003jfg.2_RNA	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	2904	Protein kinase.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					GGAAGCTGTCCGGTACCTGCA	0.642													16	20					0	0	0.004007	0	0
PRDM9	56979	broad.mit.edu	37	5	23523410	23523410	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:23523410G>A	uc003jgo.2	+	9	1075	c.893G>A	c.(892-894)GGG>GAG	p.G298E		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	298	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6						ATCACCAAGGGGAGAAACTGC	0.438										HNSCC(3;0.000094)			28	62					0	0	0.001786	0	0
CDH9	1007	broad.mit.edu	37	5	26881394	26881394	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:26881394C>T	uc003jgs.1	-	12	2390	c.2221G>A	c.(2221-2223)GAA>AAA	p.E741K	CDH9_uc011cnv.1_Missense_Mutation_p.E334K	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	741	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						TCATTCCCTTCATAGGCATAC	0.423													23	49					0	0	0.002299	0	0
PDZD2	23037	broad.mit.edu	37	5	31983537	31983537	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:31983537G>A	uc003jhl.2	+	3	1141	c.753G>A	c.(751-753)GAG>GAA	p.E251E	PDZD2_uc003jhm.2_Silent_p.E251E|PDZD2_uc011cnx.1_Silent_p.E77E	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	251					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						CTGAGCTGGAGAACGGCCCTG	0.577													13	42					0	0	0.002450	0	0
PDZD2	23037	broad.mit.edu	37	5	32087274	32087274	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:32087274G>A	uc003jhl.2	+	20	4108	c.3720G>A	c.(3718-3720)GGG>GGA	p.G1240G	PDZD2_uc003jhm.2_Silent_p.G1240G	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	1240					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						CTTCCCCAGGGAAGAAGGGGG	0.567													31	68					0	0	0.004878	0	0
PDZD2	23037	broad.mit.edu	37	5	32089917	32089917	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:32089917G>A	uc003jhl.2	+	20	6751	c.6363G>A	c.(6361-6363)CAG>CAA	p.Q2121Q	PDZD2_uc003jhm.2_Silent_p.Q2121Q	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	2121					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						GCTTGGCCCAGGGCAACTGTC	0.537													19	60					0	0	0.002299	0	0
MTMR12	54545	broad.mit.edu	37	5	32230115	32230115	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:32230115G>A	uc003jhq.2	-	16	2183	c.2013C>T	c.(2011-2013)GTC>GTT	p.V671V	MTMR12_uc010iuk.2_Silent_p.V617V|MTMR12_uc010iul.2_Silent_p.V561V	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	671						cytoplasm	phosphatase activity			ovary(1)	1						GTAAACTCTGGACTTCCTCCA	0.582													51	102					0	0	0.003610	0	0
MTMR12	54545	broad.mit.edu	37	5	32230172	32230172	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:32230172G>A	uc003jhq.2	-	16	2126	c.1956C>T	c.(1954-1956)ATC>ATT	p.I652I	MTMR12_uc010iuk.2_Silent_p.I598I|MTMR12_uc010iul.2_Silent_p.I542I	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	652						cytoplasm	phosphatase activity			ovary(1)	1						CACCACCTAGGATTTGGGCTT	0.522													41	133					0	0	0.002852	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33576177	33576177	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:33576177G>A	uc003jia.1	-	19	4117	c.3954C>T	c.(3952-3954)ATC>ATT	p.I1318I	ADAMTS12_uc010iuq.1_Silent_p.I1233I	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1318	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						AGTTTCCGACGATCCAGTGTG	0.453										HNSCC(64;0.19)			25	52					0	0	0.003330	0	0
RXFP3	51289	broad.mit.edu	37	5	33936924	33936924	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:33936924C>T	uc003jic.1	+	1	436	c.79C>T	c.(79-81)CTG>TTG	p.L27L		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	27	Extracellular (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1						ACTCTTCAGTCTGGTCCCGGA	0.622													24	50					0	0	0.003330	0	0
SPEF2	79925	broad.mit.edu	37	5	35644627	35644627	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:35644627G>A	uc003jjo.2	+	4	696	c.585G>A	c.(583-585)AAG>AAA	p.K195K	SPEF2_uc003jjn.1_Silent_p.K195K|SPEF2_uc003jjq.3_Silent_p.K195K	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	195					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			skin(2)|ovary(1)|central_nervous_system(1)	4	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATATTGAAAAGGTTCTATAGA	0.313													11	18					0	0	0.008291	0	0
UGT3A1	133688	broad.mit.edu	37	5	35965644	35965644	+	Silent	SNP	G	A	A	rs150885334		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:35965644G>A	uc003jjv.1	-	4	844	c.687C>T	c.(685-687)TTC>TTT	p.F229F	UGT3A1_uc003jjw.1_RNA|UGT3A1_uc011coq.1_Silent_p.F229F|UGT3A1_uc011cor.1_Silent_p.F195F|UGT3A1_uc003jjy.1_Silent_p.F175F	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	229	Extracellular (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(2)|central_nervous_system(1)	3	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGCCTTCTGGGAAATGCTCCT	0.458													25	43					0	0	0.003954	0	0
UGT3A1	133688	broad.mit.edu	37	5	35991297	35991297	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:35991297C>T	uc003jjv.1	-	1	203	c.46G>A	c.(46-48)GGG>AGG	p.G16R	UGT3A1_uc003jjw.1_RNA|UGT3A1_uc011coq.1_Missense_Mutation_p.G16R|UGT3A1_uc011cor.1_Missense_Mutation_p.G16R|UGT3A1_uc003jjy.1_Intron	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	16						integral to membrane	glucuronosyltransferase activity			ovary(2)|central_nervous_system(1)	3	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGCAGGACCCCAGAAAGAAGG	0.622													17	57					0	0	0.007413	0	0
LMBRD2	92255	broad.mit.edu	37	5	36116632	36116632	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:36116632G>A	uc003jkb.1	-	11	1781	c.1366C>T	c.(1366-1368)CGT>TGT	p.R456C		NM_001007527	NP_001007528	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	456	Cytoplasmic (Potential).					integral to membrane					0	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTAAATACACGAATCCTGAAC	0.348													27	72					0	0	0.003954	0	0
NIPBL	25836	broad.mit.edu	37	5	37017166	37017166	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:37017166G>C	uc003jkl.3	+	24	5321	c.4822G>C	c.(4822-4824)GCA>CCA	p.A1608P	NIPBL_uc003jkk.3_Missense_Mutation_p.A1608P	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	1608					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TTTAAGAGTGGCATCTCTTGA	0.323													12	28					0	0	0.001368	0	0
EGFLAM	133584	broad.mit.edu	37	5	38418302	38418302	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:38418302G>A	uc003jlc.1	+	12	1953	c.1629G>A	c.(1627-1629)AGG>AGA	p.R543R	EGFLAM_uc003jlb.1_Silent_p.R543R|EGFLAM_uc003jle.1_Silent_p.R309R|EGFLAM_uc003jlf.1_Intron	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G	543	Laminin G-like 1.					cell junction|proteinaceous extracellular matrix|synapse				pancreas(3)|skin(3)|ovary(1)	7	all_lung(31;0.000385)					TGAATGGGAGGAGAATTGACA	0.562													12	37					0	0	0.001855	0	0
EGFLAM	133584	broad.mit.edu	37	5	38463945	38463945	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:38463945G>A	uc003jlc.1	+	23	3235	c.2911G>A	c.(2911-2913)GAA>AAA	p.E971K	EGFLAM_uc003jlb.1_Missense_Mutation_p.E963K|EGFLAM_uc003jle.1_Missense_Mutation_p.E729K|EGFLAM_uc003jlf.1_Missense_Mutation_p.E329K|EGFLAM_uc003jlg.1_Missense_Mutation_p.E106K|EGFLAM_uc003jlh.1_Missense_Mutation_p.E53K	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G	971	Laminin G-like 3.					cell junction|proteinaceous extracellular matrix|synapse				pancreas(3)|skin(3)|ovary(1)	7	all_lung(31;0.000385)					TGGAATGAAGGAAATTGCTCT	0.537													11	45					0	0	0.000978	0	0
OSMR	9180	broad.mit.edu	37	5	38923261	38923262	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:38923261_38923262GG>AA	uc003jln.1	+	13	2142_2143	c.1775_1776GG>AA	c.(1774-1776)AGG>AAA	p.R592K	OSMR_uc011cpj.1_5'UTR	NM_003999	NP_003990	Q99650	OSMR_HUMAN	oncostatin M receptor precursor	592	Fibronectin type-III 3.|Extracellular (Potential).				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5	all_lung(31;0.000365)					GATGCTTTTAGGCCAGGAGTTC	0.302													11	38					0	0	0.004672	0	0
PRKAA1	5562	broad.mit.edu	37	5	40764629	40764629	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:40764629G>A	uc003jmc.2	-	8	1428	c.1422C>T	c.(1420-1422)TTC>TTT	p.F474F	PRKAA1_uc003jmb.2_Silent_p.F489F	NM_006251	NP_006242	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic	474					activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding			breast(1)	1					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	CAATACTACGGAAATCCAGTA	0.363													9	26					0	0	0.004482	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41019062	41019062	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:41019062G>A	uc003jmj.3	-	25	2990	c.2500C>T	c.(2500-2502)CGG>TGG	p.R834W	HEATR7B2_uc003jmi.3_Missense_Mutation_p.R389W	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	834							binding			ovary(6)|central_nervous_system(2)	8						AGCAGCCTCCGAATATTCTCC	0.463													12	28					0	0	0.001855	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41061700	41061700	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:41061700T>G	uc003jmj.3	-	6	1077	c.587A>C	c.(586-588)AAG>ACG	p.K196T		NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	196							binding			ovary(6)|central_nervous_system(2)	8						AGGGGCCCACTTCTCCATTAT	0.488													16	240					0	0	0.006122	0	0
C6	729	broad.mit.edu	37	5	41181501	41181501	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:41181501T>A	uc003jmk.2	-	7	1097	c.887A>T	c.(886-888)AAT>ATT	p.N296I	C6_uc003jml.1_Missense_Mutation_p.N296I	NM_000065	NP_000056	P13671	CO6_HUMAN	complement component 6 precursor	296	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			ovary(3)|central_nervous_system(2)|skin(2)	7		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GAAGGCAGAATTATGGTTGAT	0.353													32	76					0	0	0.004878	0	0
C6	729	broad.mit.edu	37	5	41199978	41199978	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:41199978C>A	uc003jmk.2	-	4	547	c.337G>T	c.(337-339)GGG>TGG	p.G113W	C6_uc003jml.1_Missense_Mutation_p.G113W	NM_000065	NP_000056	P13671	CO6_HUMAN	complement component 6 precursor	113	TSP type-1 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			ovary(3)|central_nervous_system(2)|skin(2)	7		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GGCTGTCCCCCAAACTGACTG	0.448													10	32					0.00621372	0.00801499	0.006214	1	0
GHR	2690	broad.mit.edu	37	5	42700047	42700047	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:42700047G>A	uc003jmt.2	+	6	604	c.561G>A	c.(559-561)TGG>TGA	p.W187*	GHR_uc011cpq.1_5'UTR	NM_000163	NP_000154	P10912	GHR_HUMAN	growth hormone receptor precursor	187	Extracellular (Potential).|Fibronectin type-III.				2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			lung(4)|kidney(1)|skin(1)	6		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AGAAAGGATGGATGGTTCTGG	0.383													6	30					0	0	0.001168	0	0
PELO	53918	broad.mit.edu	37	5	52096730	52096730	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:52096730C>T	uc003jos.2	+	2	1487	c.502C>T	c.(502-504)CCT>TCT	p.P168S	ITGA1_uc003jov.2_Intron|ITGA1_uc003jou.2_Intron|PELO_uc003jot.1_Intron	NM_015946	NP_057030	Q9BRX2	PELO_HUMAN	pelota homolog	168					cell cycle|cell division|translation	cytoplasm|nucleus	endonuclease activity|metal ion binding|protein binding				0		Lung NSC(810;4.94e-05)|Breast(144;0.0848)				GGTGAACATCCCTAGGAAAAG	0.562													24	59					0	0	0.003954	0	0
ITGA1	3672	broad.mit.edu	37	5	52223419	52223419	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:52223419C>T	uc003jou.2	+	20	2671	c.2619C>T	c.(2617-2619)ATC>ATT	p.I873I	ITGA1_uc003jov.2_RNA|ITGA1_uc003jow.2_Silent_p.I404I	NM_181501	NP_852478	P56199	ITA1_HUMAN	integrin, alpha 1 precursor	873	Extracellular (Potential).				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			ovary(2)|lung(1)	3		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				CCTAGGCTATCCAAAAAGACA	0.388													36	77					0	0	0.004878	0	0
ITGA1	3672	broad.mit.edu	37	5	52227900	52227900	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:52227900C>T	uc003jou.2	+	22	2847	c.2795C>T	c.(2794-2796)ACC>ATC	p.T932I	ITGA1_uc003jov.2_RNA|ITGA1_uc003jow.2_Missense_Mutation_p.T463I	NM_181501	NP_852478	P56199	ITA1_HUMAN	integrin, alpha 1 precursor	932	Extracellular (Potential).				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			ovary(2)|lung(1)	3		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				CCTCCTGAAACCCTTTCTGAT	0.348													13	41					0	0	0.003163	0	0
MOCS2	4338	broad.mit.edu	37	5	52402945	52402945	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:52402945G>A	uc011cqf.1	-	3	286	c.247C>T	c.(247-249)CCC>TCC	p.P83S	MOCS2_uc003joz.2_Silent_p.S20S|uc003jpb.1_5'Flank	NM_176806	NP_789776	O96033	MOC2A_HUMAN	molybdopterin synthase small subunit MOCS2A	83					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding				0		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				CTAATGGGGGGGATAACGGCA	0.428													20	59					0	0	0.002780	0	0
PIK3R1	5295	broad.mit.edu	37	5	67522769	67522769	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:67522769C>T	uc003jva.2	+	2	826	c.266C>T	c.(265-267)CCC>CTC	p.P89L	PIK3R1_uc003jvb.2_Missense_Mutation_p.P89L	NM_181523	NP_852664	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1	89					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding			endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	ACACCAAAGCCCCGGCCACCT	0.463			Mis|F|O		gliobastoma|ovarian|colorectal					TCGA GBM(4;<1E-08)			16	30					0	0	0.007413	0	0
CENPH	64946	broad.mit.edu	37	5	68487676	68487676	+	Silent	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:68487676A>T	uc003jvp.2	+	2	276	c.189A>T	c.(187-189)GCA>GCT	p.A63A	uc003jvn.1_5'Flank|uc003jvo.3_5'Flank|CENPH_uc010ixc.2_Silent_p.A63A	NM_022909	NP_075060	Q9H3R5	CENPH_HUMAN	centromere protein H	63	Potential.				cell division|CenH3-containing nucleosome assembly at centromere|chromosome segregation|kinetochore organization|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm	kinetochore binding|protein binding			large_intestine(1)	1		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.41e-56)|Epithelial(20;1.29e-52)|all cancers(19;3.15e-48)|Lung(70;0.0178)		TGGTTGATGCAAGTAAGTATT	0.184													20	47					0	0	0.008871	0	0
TAF9	6880	broad.mit.edu	37	5	68661320	68661320	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:68661320G>A	uc003jwc.1	-	2	577	c.245C>T	c.(244-246)TCT>TTT	p.S82F	TAF9_uc003jwa.2_Intron|TAF9_uc003jwb.2_Intron|TAF9_uc003jwd.1_Missense_Mutation_p.S82F|TAF9_uc003jwe.1_Missense_Mutation_p.S82F|TAF9_uc003jwf.1_Missense_Mutation_p.S82F	NM_003187	NP_003178	Q16594	TAF9_HUMAN	TAF9 RNA polymerase II, TATA box binding	82					histone H3 acetylation|negative regulation of apoptosis|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of cell growth|positive regulation of response to cytokine stimulus|positive regulation of transcription from RNA polymerase II promoter|response to interleukin-1|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	MLL1 complex|PCAF complex|pre-snoRNP complex|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex	activating transcription factor binding|C2H2 zinc finger domain binding|p53 binding|transcription coactivator activity|transcription regulatory region DNA binding				0		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		AGAGGTAAAAGACTGATCAGC	0.413													21	60					0	0	0.001882	0	0
MAP1B	4131	broad.mit.edu	37	5	71494434	71494434	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:71494434C>T	uc003kbw.3	+	5	5493	c.5252C>T	c.(5251-5253)TCC>TTC	p.S1751F	MAP1B_uc010iyw.1_Missense_Mutation_p.S1768F|MAP1B_uc010iyx.1_Missense_Mutation_p.S1625F|MAP1B_uc010iyy.1_Missense_Mutation_p.S1625F	NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1751						microtubule|microtubule associated complex	structural molecule activity			large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GATACTCTATCCGATGTTGCT	0.483													47	97					0	0	0.003610	0	0
FCHO2	115548	broad.mit.edu	37	5	72377793	72377793	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:72377793C>A	uc003kcl.2	+	23	2280	c.2164C>A	c.(2164-2166)CTT>ATT	p.L722I	FCHO2_uc011csl.1_Missense_Mutation_p.L689I|FCHO2_uc010izb.2_Missense_Mutation_p.L150I|FCHO2_uc011csn.1_Missense_Mutation_p.L150I	NM_138782	NP_620137	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2 isoform a	722										ovary(1)	1		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		CATGCAGTCCCTTCCCCCTGC	0.418													41	91					2.95478e-19	3.87068e-19	0.008740	1	0
UTP15	84135	broad.mit.edu	37	5	72873745	72873745	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:72873745C>T	uc003kcw.1	+	9	1182	c.959C>T	c.(958-960)TCT>TTT	p.S320F	UTP15_uc011cso.1_Missense_Mutation_p.S301F|UTP15_uc011csp.1_Missense_Mutation_p.S130F|UTP15_uc010ize.1_Missense_Mutation_p.S320F	NM_032175	NP_115551	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein,	320	WD 7.				rRNA processing	cytoplasm|nucleolus					0		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)		CATCGGAAATCTGAAGCAAAG	0.343													28	56					0	0	0.007291	0	0
COL4A3BP	10087	broad.mit.edu	37	5	74677854	74677854	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:74677854G>C	uc011csu.1	-	15	1959	c.1537C>G	c.(1537-1539)CGA>GGA	p.R513G	COL4A3BP_uc003kds.2_Missense_Mutation_p.R487G|COL4A3BP_uc003kdt.2_Missense_Mutation_p.R641G|COL4A3BP_uc003kdu.2_Missense_Mutation_p.R513G	NM_005713	NP_005704	Q9Y5P4	C43BP_HUMAN	alpha 3 type IV collagen binding protein isoform	513	START.				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)		GGTATCTTTCGAATGACAGAA	0.373													10	25					0	0	0.000978	0	0
IQGAP2	10788	broad.mit.edu	37	5	75866423	75866423	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:75866423C>T	uc003kek.2	+	4	544	c.322C>T	c.(322-324)CGA>TGA	p.R108*		NM_006633	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	108	CH.				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			ovary(6)|central_nervous_system(1)	7		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		CCTTCATTTTCGACACACAGA	0.428													22	94					0	0	0.002299	0	0
DMGDH	29958	broad.mit.edu	37	5	78338173	78338173	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:78338173G>A	uc003kfs.2	-	7	1132	c.1126C>T	c.(1126-1128)CCT>TCT	p.P376S	DMGDH_uc011cte.1_Missense_Mutation_p.P226S|DMGDH_uc011ctf.1_Missense_Mutation_p.P175S|DMGDH_uc011ctg.1_Intron	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase precursor	376					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			ovary(2)|liver(1)|skin(1)	4		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		AGAATGTCAGGAGAATACGTG	0.438													17	34					0	0	0.004007	0	0
CMYA5	202333	broad.mit.edu	37	5	79026021	79026021	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:79026021C>T	uc003kgc.2	+	2	1505	c.1433C>T	c.(1432-1434)CCC>CTC	p.P478L		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	478						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CCTACCCATCCCAGTGTCAAA	0.468													46	78					0	0	0.003610	0	0
CMYA5	202333	broad.mit.edu	37	5	79030981	79030981	+	Silent	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:79030981A>G	uc003kgc.2	+	2	6465	c.6393A>G	c.(6391-6393)CAA>CAG	p.Q2131Q		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2131						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TACCCACACAAAGAAAACCCA	0.443													19	66					0	0	0.008871	0	0
SPZ1	84654	broad.mit.edu	37	5	79616859	79616859	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:79616859G>A	uc003kgn.2	+	1	1070	c.825G>A	c.(823-825)CAG>CAA	p.Q275Q	uc011ctk.1_RNA	NM_032567	NP_115956	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	275					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(1)	1		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		AGAAATCTCAGAAAGACATAA	0.403													22	41					0	0	0.002299	0	0
GPR98	84059	broad.mit.edu	37	5	89949582	89949582	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:89949582C>T	uc003kju.2	+	20	4287	c.4191C>T	c.(4189-4191)TCC>TCT	p.S1397S	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	1397	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGACACTTTCCCTTCATTATA	0.373													5	20					0	0	0.001984	0	0
LNPEP	4012	broad.mit.edu	37	5	96364151	96364151	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:96364151C>T	uc003kmv.1	+	18	3506	c.2992C>T	c.(2992-2994)CGT>TGT	p.R998C	LNPEP_uc003kmw.1_Missense_Mutation_p.R984C	NM_005575	NP_005566	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase isoform 1	998	Extracellular (Potential).				cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(3)|breast(1)	4		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		CTTCCGGCTTCGTTGTGTCCA	0.448													46	68					0	0	0.003610	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101774462	101774462	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:101774462G>A	uc003knn.2	-	7	1307	c.1135C>T	c.(1135-1137)CTG>TTG	p.L379L	SLCO6A1_uc003kno.2_Intron|SLCO6A1_uc003knp.2_Silent_p.L379L|SLCO6A1_uc003knq.2_Silent_p.L317L	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family,	379	Helical; Name=7; (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|skin(3)|central_nervous_system(1)	7		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TTCTTCATCAGAATCTGaaat	0.264													19	39					0	0	0.006122	0	0
APC	324	broad.mit.edu	37	5	112175372	112175372	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:112175372C>T	uc010jby.2	+	16	4461	c.4081C>T	c.(4081-4083)CCC>TCC	p.P1361S	APC_uc011cvt.1_Missense_Mutation_p.P1343S|APC_uc003kpz.3_Missense_Mutation_p.P1361S|APC_uc003kpy.3_Missense_Mutation_p.P1361S|APC_uc010jbz.2_Missense_Mutation_p.P1078S|APC_uc010jca.2_Missense_Mutation_p.P661S	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	1361	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.P1361fs*13(19)|p.P1361L(1)|p.K1192fs*3(1)|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)		AGCGAAATCTCCCTCCAAAAG	0.463		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)			24	54					0	0	0.003954	0	0
MCC	4163	broad.mit.edu	37	5	112389430	112389430	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:112389430C>T	uc003kqj.3	-	13	2400	c.1870G>A	c.(1870-1872)GCC>ACC	p.A624T	MCC_uc003kqk.3_RNA|MCC_uc003kql.3_Missense_Mutation_p.A814T|MCC_uc011cwb.1_Missense_Mutation_p.A624T	NM_002387	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers isoform 2	624					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			ovary(1)	1		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		ACCTTCATGGCCATGAGCTCC	0.537													8	30					0	0	0.003080	0	0
TSSK1B	83942	broad.mit.edu	37	5	112770152	112770152	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:112770152C>T	uc003kqm.2	-	1	577	c.385G>A	c.(385-387)GAC>AAC	p.D129N	MCC_uc003kql.3_Intron	NM_032028	NP_114417	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1	129	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|skin(2)|stomach(1)	5		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		ACGTCCAGGTCGTGGCAGTAC	0.562													8	35					0	0	0.003080	0	0
TRIM36	55521	broad.mit.edu	37	5	114482906	114482906	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:114482906G>A	uc003kqs.2	-	3	993	c.484C>T	c.(484-486)CCA>TCA	p.P162S	TRIM36_uc011cwc.1_Missense_Mutation_p.P150S|TRIM36_uc003kqt.2_Missense_Mutation_p.P7S	NM_018700	NP_061170	Q9NQ86	TRI36_HUMAN	tripartite motif-containing 36 isoform 1	162	B box-type 1.					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding	p.P162L(1)		ovary(4)|lung(2)|breast(2)	8		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		TGAGGTGGTGGTTTACAAAGG	0.418													35	88					0	0	0.007835	0	0
SEMA6A	57556	broad.mit.edu	37	5	115782965	115782965	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:115782965G>A	uc010jck.2	-	19	3146	c.2437C>T	c.(2437-2439)CCC>TCC	p.P813S	SEMA6A_uc003krx.3_Missense_Mutation_p.P830S|SEMA6A_uc011cwe.1_Missense_Mutation_p.P192S|SEMA6A_uc003krv.3_Missense_Mutation_p.P240S|SEMA6A_uc003krw.3_Missense_Mutation_p.P290S|SEMA6A_uc010jcj.2_Missense_Mutation_p.P357S	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and	813	Cytoplasmic (Potential).|Pro-rich.				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			ovary(2)	2		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		ACCACGCTGGGGATGTGGCTG	0.642													22	36					0	0	0.001882	0	0
HSD17B4	3295	broad.mit.edu	37	5	118860975	118860975	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:118860975T>C	uc003ksj.2	+	18	1691	c.1568T>C	c.(1567-1569)CTA>CCA	p.L523P	HSD17B4_uc011cwg.1_Missense_Mutation_p.L499P|HSD17B4_uc011cwh.1_Missense_Mutation_p.L505P|HSD17B4_uc011cwi.1_Missense_Mutation_p.L548P|HSD17B4_uc003ksk.3_Missense_Mutation_p.L376P|HSD17B4_uc011cwj.1_Missense_Mutation_p.L376P|HSD17B4_uc010jcn.1_Missense_Mutation_p.L261P|HSD17B4_uc010jco.1_5'UTR	NM_000414	NP_000405	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	523	MaoC-like.|Enoyl-CoA hydratase 2.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity			ovary(1)|pancreas(1)	2		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	TTTGCTAGTCTAGCAGGTGAG	0.358													14	37					0	0	0.004007	0	0
ZNF474	133923	broad.mit.edu	37	5	121488489	121488490	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:121488489_121488490CC>TT	uc003ksv.2	+	2	1180_1181	c.804_805CC>TT	c.(802-807)CCCCTT>CCTTTT	p.L269F		NM_207317	NP_997200	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	269						intracellular	zinc ion binding				0		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		AGCCTCAGCCCCTTCCGAATGC	0.545													12	28					0	0	0.004672	0	0
SNCAIP	9627	broad.mit.edu	37	5	121787122	121787122	+	Silent	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:121787122T>A	uc003ksw.1	+	10	2786	c.2580T>A	c.(2578-2580)CCT>CCA	p.P860P	SNCAIP_uc011cwl.1_Silent_p.P418P|SNCAIP_uc003ksx.1_Silent_p.P907P|SNCAIP_uc003ksy.1_Silent_p.P494P|SNCAIP_uc003ksz.1_Silent_p.P494P|SNCAIP_uc010jcu.2_Silent_p.P456P|SNCAIP_uc011cwm.1_Silent_p.P494P|SNCAIP_uc003kta.1_Silent_p.P492P|SNCAIP_uc010jcv.1_RNA|SNCAIP_uc010jcw.1_Silent_p.P554P|SNCAIP_uc010jcx.1_Silent_p.P800P|uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Silent_p.P376P	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	synuclein alpha interacting protein	860					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			ovary(1)|pancreas(1)	2		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		TGAAAAGGCCTTTTGGAGCCT	0.463													25	53					0	0	0.003330	0	0
MARCH3	115123	broad.mit.edu	37	5	126213904	126213904	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:126213904G>A	uc003kuf.2	-	4	1031	c.576C>T	c.(574-576)CTC>CTT	p.L192L		NM_178450	NP_848545	Q86UD3	MARH3_HUMAN	membrane-associated ring finger (C3HC4) 3	192	Helical; (Potential).				endocytosis	cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosome	ligase activity|zinc ion binding			upper_aerodigestive_tract(1)	1		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.074)|OV - Ovarian serous cystadenocarcinoma(64;0.0793)		AAATAGTGAAGAGTGCGACAG	0.587													17	48					0	0	0.001523	0	0
MEGF10	84466	broad.mit.edu	37	5	126667112	126667112	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:126667112G>A	uc003kuh.3	+	3	474	c.112G>A	c.(112-114)GAA>AAA	p.E38K	MEGF10_uc010jdc.1_Missense_Mutation_p.E38K|MEGF10_uc010jdd.1_Missense_Mutation_p.E38K|MEGF10_uc003kui.3_Missense_Mutation_p.E38K	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10 precursor	38	Extracellular (Potential).|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.|EMI.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				ovary(4)	4		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TAGCCACTGGGAAAGGTAATG	0.378													31	62					0	0	0.003271	0	0
MEGF10	84466	broad.mit.edu	37	5	126781199	126781199	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:126781199G>A	uc003kuh.3	+	21	2904	c.2542G>A	c.(2542-2544)GCT>ACT	p.A848T	MEGF10_uc003kui.3_Missense_Mutation_p.A848T	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10 precursor	848	Extracellular (Potential).|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				ovary(4)	4		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		AACCAGTACTGCTCTCCCTGC	0.428													6	63					0	0	0.003080	0	0
CTXN3	613212	broad.mit.edu	37	5	126993383	126993383	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:126993383G>A	uc003kul.3	+	3	744	c.170G>A	c.(169-171)CGA>CAA	p.R57Q	CTXN3_uc003kum.3_Missense_Mutation_p.R57Q	NM_001048252	NP_001041717	Q4LDR2	CTXN3_HUMAN	cortexin 3	57						integral to membrane					0		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0128)|COAD - Colon adenocarcinoma(49;0.0234)|OV - Ovarian serous cystadenocarcinoma(64;0.038)		GATCCATATCGAAGCATGCCA	0.488													27	58					0	0	0.007291	0	0
SLC27A6	28965	broad.mit.edu	37	5	128320902	128320902	+	Silent	SNP	T	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:128320902T>G	uc003kuy.2	+	3	954	c.558T>G	c.(556-558)GTT>GTG	p.V186V	SLC27A6_uc003kuz.2_Silent_p.V186V	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid	186					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding				0		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		AAGATTCTGTTCCACAAGGTG	0.458													13	33					0	0	0.001855	0	0
GDF9	2661	broad.mit.edu	37	5	132200043	132200043	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:132200043G>A	uc003kxz.1	-	1	435	c.183C>T	c.(181-183)CTC>CTT	p.L61L	GDF9_uc011cxj.1_Intron|UQCRQ_uc003kya.1_5'Flank	NM_005260	NP_005251	O60383	GDF9_HUMAN	growth differentiation factor 9 precursor	61					female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			skin(1)	1		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCGCGGGAAGGAGGCCAGCTC	0.527													25	75					0	0	0.007291	0	0
AFF4	27125	broad.mit.edu	37	5	132232703	132232703	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:132232703G>A	uc003kyd.2	-	11	2027	c.1619C>T	c.(1618-1620)TCA>TTA	p.S540L	AFF4_uc011cxk.1_Missense_Mutation_p.S218L|AFF4_uc003kye.1_Missense_Mutation_p.S540L	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	ALL1 fused gene from 5q31	540					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|kidney(2)|skin(1)	5		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCCACTTTCTGATCCCTTTTG	0.502													44	84					0	0	0.003610	0	0
TRPC7	57113	broad.mit.edu	37	5	135692979	135692979	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:135692979A>G	uc003lbn.1	-	1	97	c.94T>C	c.(94-96)TTC>CTC	p.F32L	TRPC7_uc010jef.1_Missense_Mutation_p.F24L|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Missense_Mutation_p.F24L|TRPC7_uc010jei.1_Missense_Mutation_p.F24L|TRPC7_uc010jej.1_5'UTR	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel,	33	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)			TTCTCGTTGAACATGTAGGCG	0.612													32	71					0	0	0.008361	0	0
MYOT	9499	broad.mit.edu	37	5	137217693	137217693	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:137217693G>A	uc011cye.1	+	6	732	c.715G>A	c.(715-717)GAT>AAT	p.D239N	MYOT_uc003lbv.2_Missense_Mutation_p.D239N|MYOT_uc011cyg.1_Missense_Mutation_p.D55N|MYOT_uc011cyh.1_Missense_Mutation_p.D124N	NM_001135940	NP_001129412	Q9UBF9	MYOTI_HUMAN	myotilin isoform b	239	Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle			large_intestine(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AGATGTGAATGATCAGGATGC	0.368													18	39					0	0	0.008871	0	0
BRD8	10902	broad.mit.edu	37	5	137476508	137476508	+	Silent	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:137476508T>C	uc003lcf.1	-	26	3556	c.3501A>G	c.(3499-3501)CAA>CAG	p.Q1167Q	BRD8_uc003lcc.1_Intron|NME5_uc003lce.2_5'Flank	NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8 isoform 2	1167	Bromo 2.				cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CTCGCAGGAATTGGGCCATGG	0.458													82	224					0	0	0.003610	0	0
KDM3B	51780	broad.mit.edu	37	5	137754837	137754837	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:137754837C>T	uc003lcy.1	+	14	3831	c.3631C>T	c.(3631-3633)CCT>TCT	p.P1211S	KDM3B_uc010jew.1_Missense_Mutation_p.P867S|KDM3B_uc011cys.1_Missense_Mutation_p.P243S	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	jumonji domain containing 1B	1211					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1)	11						CATCAGGCCTCCTTGCCCTGA	0.502													9	28					0	0	0.006214	0	0
WDR55	54853	broad.mit.edu	37	5	140048690	140048690	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140048690C>T	uc003lgr.3	+	6	801	c.687C>T	c.(685-687)TCC>TCT	p.S229S	WDR55_uc011czl.1_Silent_p.S68S	NM_017706	NP_060176	Q9H6Y2	WDR55_HUMAN	WD repeat domain 55	229	WD 5.				rRNA processing	cytoplasm|nucleolus				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGTGGCTCCAGTGAAGGTA	0.537													16	19					0	0	0.004990	0	0
PCDHA3	56145	broad.mit.edu	37	5	140181759	140181759	+	Missense_Mutation	SNP	G	A	A	rs148196865		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140181759G>A	uc003lhf.2	+	1	977	c.977G>A	c.(976-978)GGA>GAA	p.G326E	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.G326E	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	326	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	p.G326E(1)		ovary(6)|skin(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGATAAAGGAAATCCCCCA	0.378													23	49					0	0	0.003954	0	0
PCDHA3	56145	broad.mit.edu	37	5	140183120	140183120	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140183120C>T	uc003lhf.2	+	1	2338	c.2338C>T	c.(2338-2340)CCA>TCA	p.P780S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.P780S	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	780	Cytoplasmic (Potential).|6 X 4 AA repeats of P-X-X-P.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(6)|skin(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTCCTTGTCCAATTAGCCG	0.483													26	64					0	0	0.003954	0	0
PCDHA4	56144	broad.mit.edu	37	5	140188692	140188692	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140188692G>A	uc003lhi.2	+	1	2021	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_uc003lhh.1_Silent_p.T640T|PCDHA4_uc011daa.1_Silent_p.T640T	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	640	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)			TGGACGAAACGGACGCTCCGC	0.672													20	47					0	0	0.001523	0	0
PCDHA7	56141	broad.mit.edu	37	5	140215098	140215098	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140215098G>A	uc003lhq.2	+	1	1130	c.1130G>A	c.(1129-1131)CGA>CAA	p.R377Q	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_Missense_Mutation_p.R377Q	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	377	Cadherin 4.|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)			GTGTTTGACCGAGATTTTGGA	0.507													33	94					0	0	0.002836	0	0
PCDHA8	56140	broad.mit.edu	37	5	140222729	140222729	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140222729C>T	uc003lhs.2	+	1	1823	c.1823C>T	c.(1822-1824)TCG>TTG	p.S608L	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.S608L	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	608	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGTGGCTTTCGTATGAGCTG	0.682													22	44					0	0	0.002299	0	0
PCDHA9	9752	broad.mit.edu	37	5	140229995	140229995	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140229995G>A	uc003lhu.2	+	1	2639	c.1915G>A	c.(1915-1917)GAA>AAA	p.E639K	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.E639K	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor	639	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			large_intestine(2)|ovary(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCCCTGGACGAAACGGACGC	0.667													20	31					0	0	0.002780	0	0
PCDHA12	56137	broad.mit.edu	37	5	140256672	140256672	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140256672G>A	uc003lic.2	+	1	1742	c.1615G>A	c.(1615-1617)GAC>AAC	p.D539N	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.D539N	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	539	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCGCGCGCGACGCCGGCGT	0.692													41	96					0	0	0.002522	0	0
PCDHA13	56136	broad.mit.edu	37	5	140262120	140262120	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140262120G>A	uc003lif.2	+	1	267	c.267G>A	c.(265-267)CGG>CGA	p.R89R	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.R89R|PCDHA13_uc003lid.2_Silent_p.R89R	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	89	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAATTCTCGGATCGACCGCG	0.597													34	141					0	0	0.004289	0	0
PCDHAC1	56135	broad.mit.edu	37	5	140307291	140307291	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140307291C>T	uc003lih.2	+	1	990	c.814C>T	c.(814-816)CTA>TTA	p.L272L	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Silent_p.L272L	NM_018898	NP_061721	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1 isoform 1	272	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGTACTCCCTAAGCAACAG	0.552													6	19					0	0	0.003080	0	0
PCDHAC1	56135	broad.mit.edu	37	5	140307828	140307828	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140307828G>A	uc003lih.2	+	1	1527	c.1351G>A	c.(1351-1353)GAA>AAA	p.E451K	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Missense_Mutation_p.E451K	NM_018898	NP_061721	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1 isoform 1	451	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCCCAGCAGGAACTTTTCGT	0.527													19	69					0	0	0.008871	0	0
PCDHB4	56131	broad.mit.edu	37	5	140501929	140501929	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140501929C>T	uc003lip.1	+	1	349	c.349C>T	c.(349-351)CAA>TAA	p.Q117*		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4 precursor	117	Cadherin 1.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCAATTTTTTCAAGGAGAATT	0.443													22	43					0	0	0.002299	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516800	140516800	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140516800C>T	uc003liq.2	+	1	2001	c.1784C>T	c.(1783-1785)TCG>TTG	p.S595L		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	595	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACGGCGACTCGGGCCAGAAC	0.706													18	57					0	0	0.006122	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531767	140531768	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140531767_140531768GG>AA	uc003lir.2	+	1	1929_1930	c.1929_1930GG>AA	c.(1927-1932)AAGGAC>AAAAAC	p.D644N	PCDHB6_uc011dah.1_Missense_Mutation_p.D508N	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	644	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTTGTCAAGGACAATGGCGA	0.698													13	44					0	0	0.004672	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559084	140559084	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140559084C>T	uc011dai.1	+	1	1655	c.1469C>T	c.(1468-1470)TCG>TTG	p.S490L	PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	490	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTCACCTACTCGCTGCTGCCG	0.657													27	31					0	0	0.006320	0	0
PCDHB16	57717	broad.mit.edu	37	5	140562936	140562936	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140562936G>A	uc003liv.2	+	1	1957	c.802G>A	c.(802-804)GAT>AAT	p.D268N	PCDHB16_uc010jfw.1_Intron	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16 precursor	268	Extracellular (Potential).|Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCCGCCAGGGATTTAGACGG	0.478													18	37					0	0	0.006122	0	0
PCDHB9	56127	broad.mit.edu	37	5	140568301	140568301	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140568301C>T	uc003liw.1	+	3	1410	c.1410C>T	c.(1408-1410)ATC>ATT	p.I470I		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	protocadherin beta 9 precursor	470	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGCACATCGGCAGTGTCA	0.652													28	71					0	0	0.007291	0	0
PCDHB11	56125	broad.mit.edu	37	5	140580484	140580484	+	Silent	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140580484A>G	uc003liy.2	+	1	1137	c.1137A>G	c.(1135-1137)GGA>GGG	p.G379G	PCDHB11_uc011daj.1_Silent_p.G14G	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11 precursor	379	Extracellular (Potential).|Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGACAACGGAAGAATTGTTT	0.428													27	70					0	0	0.001786	0	0
PCDHB11	56125	broad.mit.edu	37	5	140581700	140581700	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140581700G>A	uc003liy.2	+	1	2353	c.2353G>A	c.(2353-2355)GAA>AAA	p.E785K	PCDHB11_uc011daj.1_Missense_Mutation_p.E420K	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11 precursor	785	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAATAGTGAAGAAAACTCCAC	0.353													13	42					0	0	0.002450	0	0
PCDHB13	56123	broad.mit.edu	37	5	140594625	140594625	+	Silent	SNP	C	T	T	rs150808997		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140594625C>T	uc003lja.1	+	1	1117	c.930C>T	c.(928-930)TTC>TTT	p.F310F		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13 precursor	310	Cadherin 3.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACTCGATTTCGAAAAACTTC	0.378													34	85					0	0	0.002836	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140723808	140723808	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140723808G>A	uc003ljm.1	+	1	208	c.208G>A	c.(208-210)GGT>AGT	p.G70S	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_5'UTR|PCDHGA3_uc011dap.1_Missense_Mutation_p.G70S	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3 isoform 1	70	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTCTCCAGAGGTAGGACGCA	0.612											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	89					0	0	0.004656	0	0
PCDHGA7	56108	broad.mit.edu	37	5	140764100	140764100	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140764100A>G	uc003lka.1	+	1	1634	c.1634A>G	c.(1633-1635)AAC>AGC	p.N545S	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_uc003ljz.1_Missense_Mutation_p.N545S	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7 isoform 1	545	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)			CTCAGCAGCAACATGTCACTG	0.562													13	32					0	0	0.001855	0	0
PCDHGA7	56108	broad.mit.edu	37	5	140764876	140764876	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140764876C>T	uc003lka.1	+	1	2410	c.2410C>T	c.(2410-2412)CTG>TTG	p.L804L	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|PCDHGB4_uc003lkc.1_5'Flank|PCDHGA7_uc003ljz.1_Silent_p.L804L|PCDHGB4_uc011dav.1_5'Flank	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7 isoform 1	804	Cytoplasmic (Potential).				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)			TAAAGAAAACCTGCCAAGTAT	0.383													14	24					0	0	0.001855	0	0
PCDHGA8	9708	broad.mit.edu	37	5	140772646	140772646	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140772646G>A	uc003lkd.1	+	1	1164	c.266G>A	c.(265-267)AGG>AAG	p.R89K	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.R89K	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8 isoform 1	89	Cadherin 1.|Extracellular (Potential).				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)			ACCGCGGGCAGGATAGATCGG	0.562													9	24					0	0	0.008291	0	0
PCDHGA8	9708	broad.mit.edu	37	5	140772877	140772877	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140772877C>T	uc003lkd.1	+	1	1395	c.497C>T	c.(496-498)TCC>TTC	p.S166F	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.S166F	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8 isoform 1	166	Extracellular (Potential).|Cadherin 2.				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)			GGCGTGAACTCCCTCCAGAGC	0.552													19	36					0	0	0.001882	0	0
PCDHGB5	56101	broad.mit.edu	37	5	140778870	140778870	+	Silent	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140778870T>A	uc003lkf.1	+	1	1176	c.1176T>A	c.(1174-1176)TCT>TCA	p.S392S	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Silent_p.S392S	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	protocadherin gamma subfamily B, 5 isoform 1	392	Cadherin 4.|Extracellular (Potential).				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)			AGATTATCTCTTCATCCAAAA	0.428													14	26					0	0	0.001855	0	0
PCDHGB8P	56120	broad.mit.edu	37	5	140807430	140807430	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140807430G>A	uc011daz.1	+	1	1578	c.1219G>A	c.(1219-1221)GAG>AAG	p.E407K	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_5'Flank|PCDHGA12_uc003lkt.1_5'Flank	NR_001297				Homo sapiens PCDH-psi3 pseudogene, mRNA sequence.												0						GTGCGCCTTCGAGCTCACGAT	0.677													7	10					0	0	0.004482	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140868826	140868826	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140868826C>T	uc003lla.1	+	1	19	c.19C>T	c.(19-21)CCA>TCA	p.P7S	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc003lky.1_Intron|PCDHGC5_uc011dbc.1_Missense_Mutation_p.P7S	NM_018929	NP_061752	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5 isoform 1	7					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGACACTCCCACAGCTCGC	0.572													9	32					0	0	0.006214	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142437220	142437220	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:142437220G>A	uc011dbj.1	+	17	1481	c.1446G>A	c.(1444-1446)CAG>CAA	p.Q482Q	ARHGAP26_uc003lmt.2_Silent_p.Q482Q|ARHGAP26_uc003lmw.2_Silent_p.Q482Q	NM_015071	NP_055886	Q9UNA1	RHG26_HUMAN	GTPase regulator associated with the focal	482	Rho-GAP.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			ovary(1)	1		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGAGAACCAGGAGTCTCGGG	0.443													46	99					0	0	0.003610	0	0
SH3RF2	153769	broad.mit.edu	37	5	145379738	145379738	+	Missense_Mutation	SNP	G	A	A	rs150323691		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:145379738G>A	uc003lnt.2	+	3	734	c.496G>A	c.(496-498)GAA>AAA	p.E166K	SH3RF2_uc011dbl.1_Missense_Mutation_p.E166K	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	166	SH3 1.						ligase activity|protein phosphatase 1 binding|zinc ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTACCAGGGGGAAATCAATGG	0.547													26	38					0	0	0.006320	0	0
LARS	51520	broad.mit.edu	37	5	145493820	145493820	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:145493820C>T	uc003lnx.1	-	32	3618	c.3380G>A	c.(3379-3381)CGA>CAA	p.R1127Q	LARS_uc003lnw.1_Missense_Mutation_p.R285Q|LARS_uc011dbq.1_Missense_Mutation_p.R1081Q|LARS_uc011dbr.1_Missense_Mutation_p.R1073Q|LARS_uc011dbs.1_Missense_Mutation_p.R1100Q	NM_020117	NP_064502	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	1127					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	GACAGGAACTCGTCGAGGCCC	0.413													19	37					0	0	0.008871	0	0
POU4F3	5459	broad.mit.edu	37	5	145719179	145719180	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:145719179_145719180GG>AA	uc003loa.2	+	2	278_279	c.189_190GG>AA	c.(187-192)GTGGAT>GTAAAT	p.D64N		NM_002700	NP_002691	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	64	POU-IV box.				sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGCGGCGGTGGATATCGTCTC	0.599													24	51					0	0	0.004672	0	0
STK32A	202374	broad.mit.edu	37	5	146763046	146763046	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:146763046T>C	uc010jgn.1	+	12	1355	c.1075T>C	c.(1075-1077)TTC>CTC	p.F359L	STK32A_uc011dbw.1_Missense_Mutation_p.F359L	NM_001112724	NP_001106195	Q8WU08	ST32A_HUMAN	serine/threonine kinase 32A isoform 1	359							ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(2)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGAAGGAGTTCATAATTTT	0.388													6	5					0	0	0.003080	0	0
SPINK5	11005	broad.mit.edu	37	5	147449990	147449990	+	Silent	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:147449990A>G	uc003lox.2	+	3	259	c.186A>G	c.(184-186)AAA>AAG	p.K62K	SPINK5_uc010jgq.1_RNA|SPINK5_uc010jgs.1_Silent_p.K34K|SPINK5_uc010jgr.2_Silent_p.K43K|SPINK5_uc003low.2_Silent_p.K62K|SPINK5_uc003loy.2_Silent_p.K62K	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5 isoform	62	Kazal-like 1; atypical.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			skin(2)|ovary(1)|breast(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCATCAATAAATGTGCCACGT	0.333													39	78					0	0	0.002222	0	0
SPINK13	153218	broad.mit.edu	37	5	147649648	147649648	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:147649648C>T	uc003lpc.2	+	2	75	c.13C>T	c.(13-15)CCC>TCC	p.P5S	uc003lpb.1_Intron|SPINK13_uc010jgt.2_RNA	NM_001040129	NP_001035218	Q1W4C9	ISK13_HUMAN	serine PI Kazal type 5-like 3 precursor	5						extracellular region	serine-type endopeptidase inhibitor activity				0						GGCTGCCTTTCCCCACAAGAT	0.403													22	106					0	0	0.002299	0	0
ABLIM3	22885	broad.mit.edu	37	5	148620254	148620254	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:148620254G>A	uc003lpy.2	+	14	1471	c.1220G>A	c.(1219-1221)CGG>CAG	p.R407Q	ABLIM3_uc003lpz.1_Missense_Mutation_p.R407Q|ABLIM3_uc003lqa.1_Intron|ABLIM3_uc003lqb.2_Intron|ABLIM3_uc003lqc.1_Intron|ABLIM3_uc003lqd.1_Intron|ABLIM3_uc003lqf.2_Intron|ABLIM3_uc003lqe.1_Intron	NM_014945	NP_055760	O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	407					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			ovary(2)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGAGTGGCCGGAGCTCTCCA	0.567													14	50					0	0	0.006122	0	0
AFAP1L1	134265	broad.mit.edu	37	5	148709325	148709325	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:148709325T>C	uc003lqh.2	+	16	2038	c.1907T>C	c.(1906-1908)ATT>ACT	p.I636T	AFAP1L1_uc010jgy.2_Missense_Mutation_p.I636T|AFAP1L1_uc003lqi.1_Missense_Mutation_p.I251T	NM_152406	NP_689619	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	636	Potential.						protein binding			breast(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAGAGACGATTCGGACAGAG	0.522													13	18					0	0	0.002450	0	0
RBM22	55696	broad.mit.edu	37	5	150071405	150071405	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:150071405G>A	uc003lst.2	-	11	1293	c.1171C>T	c.(1171-1173)CCT>TCT	p.P391S		NM_018047	NP_060517	Q9NW64	RBM22_HUMAN	RNA binding motif protein 22	391	Pro-rich.				protein import into nucleus, translocation	catalytic step 2 spliceosome|cytoplasm	calcium-dependent protein binding|nucleotide binding|RNA binding|zinc ion binding				0		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGAAAGGAGGGGGTGGTCCC	0.522													22	38					0	0	0.003954	0	0
ZNF300	91975	broad.mit.edu	37	5	150282705	150282706	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:150282705_150282706GG>AA	uc003lsy.1	-	3	279_280	c.12_13CC>TT	c.(10-15)TCCCAG>TCTTAG	p.Q5*		NM_052860	NP_443092	Q96RE9	ZN300_HUMAN	zinc finger protein 300	5					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAACTCACCTGGGACTTCATCA	0.257													8	51					0	0	0.004672	0	0
CCDC69	26112	broad.mit.edu	37	5	150578589	150578589	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:150578589G>A	uc003ltq.2	-	4	411	c.288C>T	c.(286-288)GTC>GTT	p.V96V	CCDC69_uc010jhu.2_5'UTR|CCDC69_uc011dcq.1_RNA	NM_015621	NP_056436	A6NI79	CCD69_HUMAN	coiled-coil domain containing 69	96	Potential.									ovary(2)	2		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCCTTCCAGGACCCTTTGCT	0.582													30	79					0	0	0.005524	0	0
SLC36A3	285641	broad.mit.edu	37	5	150666847	150666847	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:150666847G>A	uc003ltw.2	-	6	1087	c.668C>T	c.(667-669)ACC>ATC	p.T223I	GM2A_uc011dcs.1_Intron|SLC36A3_uc003ltv.2_Missense_Mutation_p.T208I|SLC36A3_uc003ltx.2_Missense_Mutation_p.T264I	NM_181774	NP_861439	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3 isoform 2	223	Helical; (Potential).					integral to membrane				ovary(2)|skin(1)	3		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCTCCCAAGGGTGGTGATGTT	0.512													18	36					0	0	0.001523	0	0
G3BP1	10146	broad.mit.edu	37	5	151170506	151170506	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:151170506C>T	uc003lun.2	+	4	405	c.234C>T	c.(232-234)CGC>CGT	p.R78R	G3BP1_uc010jhy.1_Silent_p.R78R|G3BP1_uc003lum.2_Silent_p.R78R|G3BP1_uc011dcu.1_5'UTR|G3BP1_uc010jhz.2_5'UTR	NM_005754	NP_005745	Q13283	G3BP1_HUMAN	Ras-GTPase-activating protein SH3-domain-binding	78	NTF2.				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding			skin(3)|ovary(1)	4		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			CCAAGATTCGCCATGTTGATG	0.408													37	75					0	0	0.004289	0	0
NMUR2	56923	broad.mit.edu	37	5	151777644	151777644	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:151777644C>T	uc003luv.2	-	2	954	c.788G>A	c.(787-789)AGA>AAA	p.R263K		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	263	Cytoplasmic (Potential).				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			ovary(3)|skin(2)|lung(1)|breast(1)|pancreas(1)	8		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GACTGATTTTCTGCAGGGTCT	0.378													15	48					0	0	0.006122	0	0
GRIA1	2890	broad.mit.edu	37	5	153149806	153149806	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:153149806G>A	uc003lva.3	+	13	2466	c.2101G>A	c.(2101-2103)GAG>AAG	p.E701K	GRIA1_uc003luy.3_Missense_Mutation_p.E701K|GRIA1_uc003luz.3_Missense_Mutation_p.E606K|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.E621K|GRIA1_uc011dcx.1_Missense_Mutation_p.E632K|GRIA1_uc011dcy.1_Missense_Mutation_p.E711K|GRIA1_uc011dcz.1_Missense_Mutation_p.E711K	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1 isoform	701	Extracellular (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)	GCGGACCACAGAGGAGGGGAT	0.478													12	46					0	0	0.001368	0	0
MFAP3	4238	broad.mit.edu	37	5	153432973	153432973	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:153432973C>T	uc003lvf.2	+	3	1305	c.789C>T	c.(787-789)GAC>GAT	p.D263D	MFAP3_uc010jib.2_Silent_p.D263D|MFAP3_uc011ddb.1_Silent_p.D117D	NM_001135037	NP_001128509	P55082	MFAP3_HUMAN	microfibrillar-associated protein 3 isoform 2	263	Cytoplasmic (Potential).					integral to membrane|plasma membrane					0	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)		GAGTGGACGACCCTGATGACC	0.468													28	74					0	0	0.006320	0	0
GALNT10	55568	broad.mit.edu	37	5	153792531	153792531	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:153792531G>A	uc003lvh.2	+	10	1601	c.1469G>A	c.(1468-1470)CGA>CAA	p.R490Q	GALNT10_uc010jic.2_RNA|GALNT10_uc010jid.2_Missense_Mutation_p.R331Q|uc003lvi.2_Intron|GALNT10_uc003lvj.2_Missense_Mutation_p.R161Q	NM_198321	NP_938080	Q86SR1	GLT10_HUMAN	GalNAc transferase 10 isoform a	490	Lumenal (Potential).|Ricin B-type lectin.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(2)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GGCTGCGTCCGAGGCCGTGGG	0.622													8	26					0	0	0.003080	0	0
KIF4B	285643	broad.mit.edu	37	5	154394581	154394581	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:154394581C>T	uc010jih.1	+	1	1322	c.1162C>T	c.(1162-1164)CTG>TTG	p.L388L		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	388	Potential.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TCTACAATCCCTGATGGAGAA	0.463													50	94					0	0	0.003610	0	0
FAM71B	153745	broad.mit.edu	37	5	156589605	156589605	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:156589605C>T	uc003lwn.2	-	2	1771	c.1671G>A	c.(1669-1671)GAG>GAA	p.E557E		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	557						nucleus				ovary(4)|pancreas(1)|skin(1)	6	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CGATATCTACCTCTCTGTCAT	0.483													234	422					0	0	0.003610	0	0
FAM71B	153745	broad.mit.edu	37	5	156590038	156590038	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:156590038C>T	uc003lwn.2	-	2	1338	c.1238G>A	c.(1237-1239)GGA>GAA	p.G413E		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	413						nucleus				ovary(4)|pancreas(1)|skin(1)	6	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTTCTGGCTTCCATCTCGTTC	0.483													152	327					0	0	0.003610	0	0
C1QTNF2	114898	broad.mit.edu	37	5	159776451	159776451	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:159776451G>A	uc003lyd.2	-	3	721	c.717C>T	c.(715-717)ATC>ATT	p.I239I		NM_031908	NP_114114	Q9BXJ5	C1QT2_HUMAN	C1q and tumor necrosis factor related protein 2	194	C1q.					collagen				skin(1)	1	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGAAGTAGTAGATCCCAGGCA	0.587													16	36					0	0	0.003163	0	0
GABRA1	2554	broad.mit.edu	37	5	161300252	161300252	+	Missense_Mutation	SNP	C	T	T	rs146134200		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:161300252C>T	uc010jiw.2	+	6	853	c.385C>T	c.(385-387)CAC>TAC	p.H129Y	GABRA1_uc010jix.2_Missense_Mutation_p.H129Y|GABRA1_uc010jiy.2_Missense_Mutation_p.H129Y|GABRA1_uc003lyx.3_Missense_Mutation_p.H129Y|GABRA1_uc010jiz.2_Missense_Mutation_p.H129Y|GABRA1_uc010jja.2_Missense_Mutation_p.H129Y|GABRA1_uc010jjb.2_Missense_Mutation_p.H129Y	NM_000806	NP_000797	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha	129	Extracellular (Probable).			Missing (in Ref. 4; CAA31925).	gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|pancreas(1)	3	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	CACATTTTTCCACAATGGAAA	0.453													24	38					0	0	0.003330	0	0
SLIT3	6586	broad.mit.edu	37	5	168212958	168212958	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:168212958C>T	uc003mab.2	-	12	1525	c.1105G>A	c.(1105-1107)GAG>AAG	p.E369K	SLIT3_uc010jjg.2_Missense_Mutation_p.E369K|SLIT3_uc010jji.2_Missense_Mutation_p.E369K|SLIT3_uc003mac.1_Missense_Mutation_p.E166K	NM_003062	NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 precursor	369	LRR 9.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			ovary(3)|skin(1)	4	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTGACAATCTCGGTGATCTTG	0.522													17	31					0	0	0.006122	0	0
HRH2	3274	broad.mit.edu	37	5	175110437	175110437	+	Silent	SNP	C	T	T	rs149131528	byFrequency	TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:175110437C>T	uc003mdd.2	+	1	1974	c.201C>T	c.(199-201)CTC>CTT	p.L67L	HRH2_uc003mdc.3_Silent_p.L67L	NM_022304	NP_071640	P25021	HRH2_HUMAN	histamine receptor H2 isoform 2	67	Helical; Name=2; (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			ovary(1)	1	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	ACCTGCTCCTCGGCCTCCTGG	0.572													23	60					0	0	0.002780	0	0
CPLX2	10814	broad.mit.edu	37	5	175306946	175306946	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:175306946C>T	uc003mde.1	+	5	649	c.303C>T	c.(301-303)ATC>ATT	p.I101I	CPLX2_uc003mdf.1_Silent_p.I101I	NM_006650	NP_006641	Q6PUV4	CPLX2_HUMAN	complexin 2	101					mast cell degranulation|positive regulation of synaptic plasticity|vesicle docking involved in exocytosis	cytosol				ovary(1)	1	all_cancers(89;0.004)|Renal(175;0.000269)|Lung NSC(126;0.00441)|all_lung(126;0.00747)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			AGAAGGCCATCCCTGCGGGCT	0.627													11	16					0	0	0.000978	0	0
FAF2	23197	broad.mit.edu	37	5	175921194	175921194	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:175921194C>T	uc003mej.3	+	7	632	c.579C>T	c.(577-579)CTC>CTT	p.L193L		NM_014613	NP_055428	Q96CS3	FAF2_HUMAN	UBX domain containing 8	193					response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding			ovary(1)	1						GCAACACACTCTGTGCACCTG	0.388													18	46					0	0	0.007413	0	0
CDHR2	54825	broad.mit.edu	37	5	176016391	176016391	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:176016391G>A	uc003mem.1	+	23	3135	c.3069G>A	c.(3067-3069)AGG>AGA	p.R1023R	CDHR2_uc003men.1_Silent_p.R1023R	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN	protocadherin LKC precursor	1023	Extracellular (Potential).|Cadherin 9.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			ovary(2)	2						TCCAGGCCAGGGACAGACCTT	0.647													21	64					0	0	0.002780	0	0
HK3	3101	broad.mit.edu	37	5	176311090	176311090	+	Missense_Mutation	SNP	C	T	T	rs150421022	byFrequency	TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:176311090C>T	uc003mfa.2	-	14	1995	c.1903G>A	c.(1903-1905)GAG>AAG	p.E635K	HK3_uc003mez.2_Missense_Mutation_p.E191K	NM_002115	NP_002106	P52790	HXK3_HUMAN	hexokinase 3	635	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	7	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTTGGCCCTCGCAGTCTGAT	0.607													37	56					0	0	0.008740	0	0
ZNF354A	6940	broad.mit.edu	37	5	178140387	178140387	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:178140387C>T	uc003mjj.2	-	5	690	c.492G>A	c.(490-492)TTG>TTA	p.L164L		NM_005649	NP_005640	O60765	Z354A_HUMAN	zinc finger protein 354A	164					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(1)	3	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		AGTTTTGGCTCAATTCAGTAT	0.378													65	174					0	0	0.003610	0	0
GRM6	2916	broad.mit.edu	37	5	178408731	178408731	+	Missense_Mutation	SNP	C	T	T	rs145110689		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:178408731C>T	uc003mjr.2	-	10	2740	c.2561G>A	c.(2560-2562)CGA>CAA	p.R854Q	GRM6_uc003mjq.2_Missense_Mutation_p.R257Q	NM_000843	NP_000834	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6 precursor	854	Cytoplasmic (Potential).				detection of visible light|visual perception	integral to plasma membrane				lung(4)|ovary(2)|breast(1)|pancreas(1)	8	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GCTCCGCTTTCGCTTCTGCAC	0.612													33	56					0	0	0.002836	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179321405	179321405	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:179321405G>A	uc003mlh.2	-	4	595	c.558C>T	c.(556-558)TCC>TCT	p.S186S	TBC1D9B_uc003mli.2_Silent_p.S186S|TBC1D9B_uc003mlj.2_Silent_p.S186S	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	186	GRAM 1.					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)			CCAGCAGGAAGGAGTAGAAGC	0.652													7	21					0	0	0.001984	0	0
GFPT2	9945	broad.mit.edu	37	5	179743856	179743856	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:179743856G>A	uc003mlw.1	-	12	1158	c.1060C>T	c.(1060-1062)CTG>TTG	p.L354L		NM_005110	NP_005101	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	354					dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			ovary(1)|skin(1)	2	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	AAGCCACCCAGGAGCACTGCA	0.592													10	16					0	0	0.008291	0	0
TRIM41	90933	broad.mit.edu	37	5	180659705	180659705	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:180659705G>A	uc003mne.1	+	3	1650	c.956G>A	c.(955-957)CGA>CAA	p.R319Q	uc003mnb.1_5'Flank|TRIM41_uc003mnc.1_3'UTR|TRIM41_uc003mnd.1_Missense_Mutation_p.R319Q|TRIM41_uc003mnf.1_RNA|TRIM41_uc010jlq.1_Missense_Mutation_p.R29Q|TRIM41_uc003mng.1_5'Flank	NM_033549	NP_291027	Q8WV44	TRI41_HUMAN	tripartite motif-containing 41 isoform 1	319	Potential.					cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding				0	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGTTTGGGCGACTGACACGG	0.612													14	21					0	0	0.006122	0	0
DUSP22	56940	broad.mit.edu	37	6	348797	348797	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:348797G>A	uc003msx.2	+	7	903	c.464G>A	c.(463-465)GGA>GAA	p.G155E	DUSP22_uc011dhn.1_Missense_Mutation_p.G155E|DUSP22_uc003msy.1_Missense_Mutation_p.G112E	NM_020185	NP_064570	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	155					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		GAAGAATATGGAGAGAGCCCT	0.557													9	48					0	0	0.001368	0	0
CAGE1	285782	broad.mit.edu	37	6	7378996	7378996	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:7378996C>T	uc003mxl.1	-	4	1072	c.541G>A	c.(541-543)GAG>AAG	p.E181K	CAGE1_uc003mxi.2_Missense_Mutation_p.E45K|CAGE1_uc003mxj.2_5'UTR			Q8TC20	CAGE1_HUMAN	Homo sapiens CAGE-1 mRNA, complete cds.	181											0	Ovarian(93;0.0418)					CTAAAATACTCGTTACCAAGT	0.383													14	46					0	0	0.004007	0	0
DSP	1832	broad.mit.edu	37	6	7579632	7579632	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:7579632C>T	uc003mxp.1	+	23	3488	c.3209C>T	c.(3208-3210)TCC>TTC	p.S1070F	DSP_uc003mxq.1_Missense_Mutation_p.S1070F	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	1070	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GCAGAGTGTTCCCAGTTCAAA	0.507													11	53					0	0	0.002450	0	0
SLC35B3	51000	broad.mit.edu	37	6	8419894	8419894	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:8419894G>A	uc010joe.2	-	7	865	c.699C>T	c.(697-699)TCC>TCT	p.S233S	SLC35B3_uc003mya.2_Silent_p.S201S|SLC35B3_uc003myc.2_RNA|SLC35B3_uc003myb.2_Silent_p.S233S|SLC35B3_uc011did.1_Silent_p.S233S|SLC35B3_uc003myd.2_RNA	NM_001142541	NP_001136013	Q9H1N7	S35B3_HUMAN	solute carrier family 35, member B3	233	Helical; (Potential).				transmembrane transport	Golgi membrane|integral to membrane					0	Ovarian(93;0.0569)					ATAGTGCCAGGGAAATAAGCA	0.323													31	65					0	0	0.002836	0	0
PAK1IP1	55003	broad.mit.edu	37	6	10705067	10705067	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:10705067C>T	uc003mzg.2	+	7	761	c.730C>T	c.(730-732)CAT>TAT	p.H244Y		NM_017906	NP_060376	Q9NWT1	PK1IP_HUMAN	PAK1 interacting protein 1	244	WD 5.				negative regulation of signal transduction	nucleolus|plasma membrane					0	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.117)				ATTTAAAGCTCATGAAAACAG	0.358													26	59					0	0	0.003954	0	0
SYCP2L	221711	broad.mit.edu	37	6	10894423	10894423	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:10894423G>A	uc003mzo.2	+	4	618	c.322G>A	c.(322-324)GGA>AGA	p.G108R	SYCP2L_uc011dim.1_RNA	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	108						nucleus				ovary(1)|skin(1)	2	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			AATTCGGCAGGGACTGATCCC	0.368													16	79					0	0	0.008871	0	0
SYCP2L	221711	broad.mit.edu	37	6	10927577	10927578	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:10927577_10927578GG>AA	uc003mzo.2	+	17	1713_1714	c.1417_1418GG>AA	c.(1417-1419)GGG>AAG	p.G473K	SYCP2L_uc011din.1_Intron|SYCP2L_uc010jow.2_Missense_Mutation_p.G93K	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	473						nucleus				ovary(1)|skin(1)	2	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			ACCTGTtattggggaacctgcc	0.218													6	12					0	0	0.004672	0	0
ATXN1	6310	broad.mit.edu	37	6	16328446	16328446	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:16328446G>A	uc003nbt.2	-	8	1067	c.96C>T	c.(94-96)ACC>ACT	p.T32T	ATXN1_uc010jpi.2_Silent_p.T32T|ATXN1_uc010jpj.1_Intron	NM_000332	NP_000323	P54253	ATX1_HUMAN	ataxin 1	32					cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			skin(3)|central_nervous_system(1)	4	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				CGCTGGGCAGGGTAGGGGCCT	0.682													27	44					0	0	0.007291	0	0
KIF13A	63971	broad.mit.edu	37	6	17817384	17817384	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:17817384T>C	uc003ncg.3	-	17	1972	c.1867A>G	c.(1867-1869)ATG>GTG	p.M623V	KIF13A_uc003ncf.2_Missense_Mutation_p.M623V|KIF13A_uc003nch.3_Missense_Mutation_p.M623V|KIF13A_uc003nci.3_Missense_Mutation_p.M623V|KIF13A_uc003ncj.2_Missense_Mutation_p.M299V	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	kinesin family member 13A isoform a	623	Potential.				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			large_intestine(2)|ovary(2)	4	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CGCTCATACATGAGCCGCTGC	0.572													19	47					0	0	0.001523	0	0
SLC17A4	10050	broad.mit.edu	37	6	25777085	25777085	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:25777085G>A	uc003nfe.2	+	10	1285	c.1166G>A	c.(1165-1167)AGA>AAA	p.R389K	SLC17A4_uc011djx.1_Missense_Mutation_p.R159K|SLC17A4_uc003nff.1_Missense_Mutation_p.R178K|SLC17A4_uc003nfg.2_Missense_Mutation_p.R326K|SLC17A4_uc010jqa.2_Intron	NM_005495	NP_005486	Q9Y2C5	S17A4_HUMAN	solute carrier family 17 (sodium phosphate),	389					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			skin(1)	1						CCCTGGGTCAGATCCAGCCAC	0.537													24	59					0	0	0.004656	0	0
SLC17A3	10786	broad.mit.edu	37	6	25850383	25850383	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:25850383G>A	uc003nfi.3	-	8	892	c.782C>T	c.(781-783)CCT>CTT	p.P261L	SLC17A3_uc003nfk.3_Missense_Mutation_p.P339L|SLC17A3_uc011djz.1_3'UTR	NM_006632	NP_006623	O00476	NPT4_HUMAN	solute carrier family 17 (sodium phosphate),	261	Helical; (Potential).				glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity				0						AACAATAAAAGGAAGGGCAGA	0.378													6	16					0	0	0.001168	0	0
ZNF391	346157	broad.mit.edu	37	6	27369111	27369111	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:27369111T>A	uc003njf.1	+	3	1480	c.962T>A	c.(961-963)ATT>AAT	p.I321N		NM_001076781	NP_001070249	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	321	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(2)|skin(1)	3						TCATCCCTTATTATTCATCAG	0.463													15	38					0	0	0.004990	0	0
OR2B6	26212	broad.mit.edu	37	6	27925786	27925786	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:27925786C>T	uc011dkx.1	+	1	768	c.768C>T	c.(766-768)GTC>GTT	p.V256V		NM_012367	NP_036499	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B,	256	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						GTACAGCCGTCTCTGTGTACC	0.458													34	75					0	0	0.003755	0	0
SCAND3	114821	broad.mit.edu	37	6	28543161	28543161	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:28543161C>T	uc003nlo.2	-	3	1939	c.1321G>A	c.(1321-1323)GAA>AAA	p.E441K		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	441	Integrase catalytic.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			ovary(1)	1						CTTGAAAATTCCCTCCCATTG	0.418													17	36					0	0	0.004990	0	0
SCAND3	114821	broad.mit.edu	37	6	28554492	28554492	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:28554492C>T	uc003nlo.2	-	1	621	c.3G>A	c.(1-3)ATG>ATA	p.M1I	uc003nlp.1_5'Flank	NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	1					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			ovary(1)	1						AGACTGCTTCCATCCCGAGCT	0.488													16	40					0	0	0.004990	0	0
OR2W1	26692	broad.mit.edu	37	6	29012589	29012589	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:29012589G>A	uc003nlw.2	-	1	364	c.364C>T	c.(364-366)CGT>TGT	p.R122C		NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W,	122	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R122S(1)		ovary(2)|skin(1)	3						GCTGTAAAACGATCATAGGAC	0.398													8	24					0	0	0.003080	0	0
OR2J2	26707	broad.mit.edu	37	6	29141779	29141779	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:29141779C>T	uc011dlm.1	+	1	469	c.367C>T	c.(367-369)CGT>TGT	p.R123C		NM_030905	NP_112167	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J,	123	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						GTCATATGATCGTTATGTAGC	0.448													68	141					0	0	0.003610	0	0
OR12D2	26529	broad.mit.edu	37	6	29364563	29364563	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:29364563C>T	uc003nmf.3	+	1	148	c.87C>T	c.(85-87)TTC>TTT	p.F29F		NM_013936	NP_039224	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D,	29	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						TCGTGGTTTTCCTCACCATCT	0.448													33	96					0	0	0.002096	0	0
TRIM26	7726	broad.mit.edu	37	6	30166681	30166681	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:30166681G>A	uc003npr.2	-	3	409	c.200C>T	c.(199-201)CCC>CTC	p.P67L	TRIM26_uc003nps.2_Missense_Mutation_p.P67L|TRIM26_uc010jry.2_5'UTR|TRIM26_uc003npt.2_Missense_Mutation_p.P67L|TRIM26_uc003npu.1_Missense_Mutation_p.P67L	NM_003449	NP_003440	Q12899	TRI26_HUMAN	tripartite motif-containing 26	67							DNA binding|zinc ion binding			ovary(2)|lung(1)	3						TTGCCACACGGGTCGGATGTT	0.627													18	39					0	0	0.006122	0	0
CDSN	1041	broad.mit.edu	37	6	31084658	31084658	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:31084658G>A	uc003nsm.1	-	2	761	c.734C>T	c.(733-735)TCT>TTT	p.S245F	PSORS1C1_uc003nsl.1_Intron|PSORS1C1_uc010jsj.1_Intron	NM_001264	NP_001255	Q15517	CDSN_HUMAN	corneodesmosin precursor	245	Ser-rich.				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			ovary(1)|pancreas(1)	2						CCCTGACACAGAGTGGGAGCT	0.642													9	32					0	0	0.004482	0	0
BAT2	7916	broad.mit.edu	37	6	31593085	31593086	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:31593085_31593086CC>TT	uc003nvb.3	+	6	850_851	c.601_602CC>TT	c.(601-603)CCC>TTC	p.P201F	BAT2_uc011dnv.1_RNA|BAT2_uc003nvc.3_Missense_Mutation_p.P201F|BAT2_uc003nve.2_Missense_Mutation_p.P64F	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	201	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding				0						AAGCCTCCGCCCCCAAAGTGAG	0.574													15	48					0	0	0.004672	0	0
BAT3	7917	broad.mit.edu	37	6	31608608	31608608	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:31608608G>A	uc003nvg.3	-	20	3119	c.2805C>T	c.(2803-2805)GCC>GCT	p.A935A	BAT3_uc003nvf.3_Silent_p.A929A|BAT3_uc003nvh.3_Silent_p.A929A|BAT3_uc003nvi.3_Silent_p.A929A|BAT3_uc011dnw.1_Silent_p.A929A|BAT3_uc011dnx.1_Silent_p.A803A	NM_004639	NP_004630	P46379	BAG6_HUMAN	HLA-B associated transcript-3 isoform a	935					apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding				0						ATCTGAGAATGGCATCAGGGC	0.572													89	185					0	0	0.003610	0	0
BAT5	7920	broad.mit.edu	37	6	31656841	31656841	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:31656841G>A	uc003nvy.1	-	13	1167	c.1137C>T	c.(1135-1137)TCC>TCT	p.S379S	BAT5_uc003nvx.1_Silent_p.S160S|BAT5_uc011dny.1_Silent_p.S346S|BAT5_uc003nvz.1_Silent_p.S160S|BAT5_uc011dnz.1_Silent_p.S160S	NM_021160	NP_066983	O95870	ABHGA_HUMAN	HLA-B associated transcript 5	379						integral to membrane	hydrolase activity|protein binding				0						GGTCATCAAAGGAGGCATCCA	0.587													60	136					0	0	0.003610	0	0
C6orf25	80739	broad.mit.edu	37	6	31691456	31691456	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:31691456C>T	uc011doc.1	+	2	102	c.102C>T	c.(100-102)TCC>TCT	p.S34S	LY6G6C_uc003nwh.2_5'Flank|LY6G6C_uc010jtd.2_5'Flank|C6orf25_uc003nwk.2_Silent_p.S34S|C6orf25_uc011dod.1_Silent_p.S34S|C6orf25_uc011doe.1_Silent_p.S34S|C6orf25_uc003nwo.2_Silent_p.S34S|C6orf25_uc003nwn.2_Silent_p.S34S	NM_138272	NP_612116	O95866	G6B_HUMAN	G6B protein isoform G6b-B precursor	34	Extracellular (Potential).					endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity				0						TGAATCTCTCCTGCGGAGGAG	0.662													36	112					0	0	0.006999	0	0
SLC44A4	80736	broad.mit.edu	37	6	31838769	31838770	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:31838769_31838770CC>TT	uc010jti.2	-	10	822_823	c.756_757GG>AA	c.(754-759)CTGGTG>CTAATG	p.V253M	SLC44A4_uc011dol.1_Missense_Mutation_p.V177M|SLC44A4_uc011dom.1_Missense_Mutation_p.V211M	NM_025257	NP_079533	Q53GD3	CTL4_HUMAN	choline transporter-like protein 4	253	Helical; (Potential).					integral to membrane|plasma membrane	choline transmembrane transporter activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4					Choline(DB00122)	GGCCCAGCCACCAGGCGCAGAA	0.614													34	74					0	0	0.004672	0	0
SKIV2L	6499	broad.mit.edu	37	6	31928279	31928279	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:31928279C>T	uc003nyn.1	+	5	814	c.425C>T	c.(424-426)TCC>TTC	p.S142F	RDBP_uc003nyk.2_5'Flank|RDBP_uc011dot.1_5'Flank|RDBP_uc003nyl.1_5'Flank|RDBP_uc003nym.1_5'Flank|SKIV2L_uc011dou.1_5'UTR|SKIV2L_uc011dov.1_Intron	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like homolog	142						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						GGGCCAGCCTCCCAGTCCTTA	0.542													98	227					0	0	0.003610	0	0
TNXB	7148	broad.mit.edu	37	6	32020765	32020765	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:32020765C>T	uc003nzl.2	-	26	8993	c.8791G>A	c.(8791-8793)GAG>AAG	p.E2931K		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	2978					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						GTTTCTTCCTCTGCAGCTGAG	0.642													27	130					0	0	0.004656	0	0
TNXB	7148	broad.mit.edu	37	6	32053659	32053659	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:32053659C>T	uc003nzl.2	-	7	3218	c.3016G>A	c.(3016-3018)GAA>AAA	p.E1006K		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	1093	Fibronectin type-III 3.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						GGCAGCACTTCCTCATGTGCC	0.677													107	268					0	0	0.003610	0	0
TAP2	6891	broad.mit.edu	37	6	32782108	32782108	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:32782108G>A	uc011dqf.1	-	14	2575	c.2453C>T	c.(2452-2454)TCT>TTT	p.S818F	HLA-DOB_uc003oca.2_Missense_Mutation_p.S211F|HLA-DOB_uc011dqg.1_Missense_Mutation_p.S211F	NM_018833	NP_061313	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family	Error:Variant_position_missing_in_Q03519_after_alignment					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding				0						CCACTCCACAGAAACAGGGCT	0.488													17	47					0	0	0.008871	0	0
HLA-DOA	3111	broad.mit.edu	37	6	32975332	32975332	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:32975332C>T	uc003ocr.2	-	3	445	c.369G>A	c.(367-369)GTG>GTA	p.V123V	HLA-DOA_uc010juj.2_Silent_p.V93V|HLA-DOA_uc010jui.2_Silent_p.V123V	NM_002119	NP_002110	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO	123	Extracellular (Potential).|Alpha-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity				0						GGCCCAGCTCCACCCGAGACT	0.607													17	68					0	0	0.004990	0	0
DAXX	1616	broad.mit.edu	37	6	33288175	33288175	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:33288175G>A	uc003oec.2	-	4	1437	c.1233C>T	c.(1231-1233)GCC>GCT	p.A411A	ZBTB22_uc003oeb.2_5'Flank|ZBTB22_uc010juu.2_5'Flank|DAXX_uc011drd.1_Silent_p.A336A|DAXX_uc011dre.1_Silent_p.A423A|DAXX_uc003oed.2_Silent_p.A411A|DAXX_uc010juw.2_Silent_p.A336A	NM_001350	NP_001341	Q9UER7	DAXX_HUMAN	death-domain associated protein isoform a	411	Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			pancreas(18)|ovary(2)|skin(2)|prostate(1)	23						AATCCAAGGAGGCTTCGGGGG	0.552			Mis|F|N		Pancreatic neuroendocrine tumors								16	55					0	0	0.004990	0	0
ITPR3	3710	broad.mit.edu	37	6	33625713	33625713	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:33625713C>T	uc011drk.1	+	4	506	c.287C>T	c.(286-288)GCG>GTG	p.A96V		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	96	Cytoplasmic (Potential).				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						GTGCAGCATGCGGCGCAGATG	0.493													5	9					0	0	0.000602	0	0
ANKS1A	23294	broad.mit.edu	37	6	34985303	34985303	+	Missense_Mutation	SNP	G	A	A	rs138620347		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:34985303G>A	uc003ojx.3	+	11	1619	c.1477G>A	c.(1477-1479)GGG>AGG	p.G493R	ANKS1A_uc011dss.1_Intron|ANKS1A_uc011dst.1_Missense_Mutation_p.G33R|ANKS1A_uc010jvp.1_Intron	NM_015245	NP_056060	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain	493						cytoplasm	protein binding			ovary(3)|upper_aerodigestive_tract(1)	4						GGGGCAGGACGGGCAGGTCCC	0.627													22	36					0	0	0.002780	0	0
SCUBE3	222663	broad.mit.edu	37	6	35212515	35212515	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:35212515G>A	uc003okf.1	+	18	2334	c.2328G>A	c.(2326-2328)CAG>CAA	p.Q776Q	SCUBE3_uc003okg.1_Silent_p.Q775Q|SCUBE3_uc003okh.1_Silent_p.Q663Q	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	776					protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			skin(1)	1						ACTTCCGTCAGAACTTCTGCA	0.562													32	71					0	0	0.003755	0	0
TEAD3	7005	broad.mit.edu	37	6	35454263	35454263	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:35454263G>A	uc003oku.3	-	2	413	c.177C>T	c.(175-177)ATC>ATT	p.I59I	TEAD3_uc010jvx.2_Missense_Mutation_p.S42F	NM_003214	NP_003205	Q99594	TEAD3_HUMAN	TEA domain family member 3	59	TEA.				female pregnancy|hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						CGTCTGACAGGATGATCTTCC	0.692													11	28					0	0	0.001368	0	0
TBC1D22B	55633	broad.mit.edu	37	6	37254828	37254828	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:37254828C>T	uc003onn.2	+	7	993	c.847C>T	c.(847-849)CAG>TAG	p.Q283*	TBC1D22B_uc010jwt.2_RNA	NM_017772	NP_060242	Q9NU19	TB22B_HUMAN	TBC1 domain family, member 22B	283	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0			OV - Ovarian serous cystadenocarcinoma(102;0.241)			TCCGTTGTTCCAGCAACCACT	0.413													32	96					0	0	0.003755	0	0
LRFN2	57497	broad.mit.edu	37	6	40360048	40360048	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:40360048C>T	uc003oph.1	-	3	2469	c.2004G>A	c.(2002-2004)CAG>CAA	p.Q668Q		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III	668	Cytoplasmic (Potential).					cell junction|integral to membrane|postsynaptic membrane				ovary(2)|skin(1)	3	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCTCCTTTCTCTGACTCTTGA	0.721													3	11					0	0	0.000248	0	0
TREML2	79865	broad.mit.edu	37	6	41162494	41162494	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:41162494C>T	uc010jxm.1	-	3	633	c.454G>A	c.(454-456)GCC>ACC	p.A152T		NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid	152	Extracellular (Potential).				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			ovary(1)|central_nervous_system(1)	2	Ovarian(28;0.0418)|Colorectal(47;0.196)					GAGGTAGGGGCTTGGCCAGTT	0.537													10	25					0	0	0.001368	0	0
TREML2	79865	broad.mit.edu	37	6	41165886	41165886	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:41165886G>A	uc010jxm.1	-	2	516	c.337C>T	c.(337-339)CTG>TTG	p.L113L		NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid	113	Ig-like V-type.|Extracellular (Potential).				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			ovary(1)|central_nervous_system(1)	2	Ovarian(28;0.0418)|Colorectal(47;0.196)					AAGGGGTACAGGATCCCAGAG	0.627													4	20					0	0	0.000602	0	0
FRS3	10817	broad.mit.edu	37	6	41738731	41738731	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:41738731G>A	uc003orc.1	-	7	1349	c.1105C>T	c.(1105-1107)CCA>TCA	p.P369S		NM_006653	NP_006644	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	369					fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			ovary(2)	2	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TTCTGCAGTGGGGTCTCGTCC	0.667													20	53					0	0	0.002299	0	0
UBR2	23304	broad.mit.edu	37	6	42613322	42613322	+	Silent	SNP	T	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:42613322T>G	uc011dur.1	+	21	2403	c.2403T>G	c.(2401-2403)CCT>CCG	p.P801P	UBR2_uc011dus.1_Silent_p.P446P|UBR2_uc003osh.2_RNA	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin	801					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			ovary(3)|pancreas(1)	4	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			AGTCTTTACCTGAAGATGTAA	0.363													28	64					0	0	0.008361	0	0
KIAA0240	23506	broad.mit.edu	37	6	42796338	42796338	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:42796338C>T	uc003osn.1	+	6	418	c.267C>T	c.(265-267)CTC>CTT	p.L89L	KIAA0240_uc003osm.1_Silent_p.L89L|KIAA0240_uc011duw.1_Silent_p.L89L|KIAA0240_uc003oso.1_Silent_p.L89L|KIAA0240_uc003osp.1_Silent_p.L89L	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	hypothetical protein LOC23506	89										ovary(1)	1	Colorectal(47;0.196)		Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)			AAGATGAACTCGAGTCTTCTC	0.473													7	43					0	0	0.001984	0	0
KLC4	89953	broad.mit.edu	37	6	43030843	43030843	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:43030843C>T	uc003otv.1	+	3	524	c.447C>T	c.(445-447)TTC>TTT	p.F149F	KLC4_uc003otr.1_RNA|KLC4_uc011dvd.1_Intron|KLC4_uc003otu.2_Silent_p.F149F|KLC4_uc003otw.1_Silent_p.F167F|KLC4_uc003otx.1_Silent_p.F149F|KLC4_uc003oty.1_Silent_p.F149F|KLC4_uc003otz.1_Silent_p.F149F	NM_201521	NP_958929	Q9NSK0	KLC4_HUMAN	kinesin-like 8 isoform a	149	Potential.					cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding			skin(3)|ovary(1)	4			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			ACCTGGAGTTCCTGGGGCAGC	0.622													9	29					0	0	0.004482	0	0
CUL9	23113	broad.mit.edu	37	6	43164546	43164546	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:43164546C>T	uc003ouk.2	+	11	2824	c.2749C>T	c.(2749-2751)CTC>TTC	p.L917F	CUL9_uc003oul.2_Missense_Mutation_p.L917F|CUL9_uc010jyk.2_Missense_Mutation_p.L69F	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	917					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						ACGCACCATCCTCATGATGCT	0.537													6	33					0	0	0.001168	0	0
CUL9	23113	broad.mit.edu	37	6	43171327	43171327	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:43171327C>T	uc003ouk.2	+	19	4097	c.4022C>T	c.(4021-4023)CCC>CTC	p.P1341L	CUL9_uc003oul.2_Missense_Mutation_p.P1341L|CUL9_uc010jyk.2_Missense_Mutation_p.P493L	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	1341					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						CAGCTCTGTCCCAGGTGGGTG	0.607													18	29					0	0	0.004990	0	0
YIPF3	25844	broad.mit.edu	37	6	43480049	43480049	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:43480049G>A	uc003ovl.1	-	9	1066	c.909C>T	c.(907-909)ATC>ATT	p.I303I	C6orf154_uc003ovk.1_5'Flank|YIPF3_uc011dvk.1_Silent_p.I268I|YIPF3_uc010jyr.1_Silent_p.I309I|YIPF3_uc010jys.1_Silent_p.I146I|YIPF3_uc003ovm.1_Silent_p.I177I|YIPF3_uc010jyt.1_Silent_p.I214I	NM_015388	NP_056203	Q9GZM5	YIPF3_HUMAN	natural killer cell-specific antigen KLIP1	303					cell differentiation	integral to membrane|plasma membrane|transport vesicle					0	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			GTGTGTCCAGGATCCCTGGAA	0.602													17	51					0	0	0.001523	0	0
TCTE1	202500	broad.mit.edu	37	6	44253974	44253974	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:44253974G>A	uc003oxi.2	-	3	729	c.573C>T	c.(571-573)GTC>GTT	p.V191V	SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	t-complex-associated testis expressed 1	191										ovary(2)|skin(2)	4	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GATCGACGTGGACCCTGCGCA	0.662													11	35					0	0	0.001855	0	0
CDC5L	988	broad.mit.edu	37	6	44371580	44371580	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:44371580C>T	uc003oxl.2	+	6	833	c.574C>T	c.(574-576)CGA>TGA	p.R192*		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	CDC5-like	192	Potential.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			lung(3)|ovary(1)|kidney(1)|skin(1)	6	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AAGAGAACTTCGAGCAGCTGG	0.378													21	45					0	0	0.003330	0	0
ENPP4	22875	broad.mit.edu	37	6	46107693	46107693	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:46107693C>T	uc003oxy.2	+	2	632	c.373C>T	c.(373-375)CTT>TTT	p.L125F		NM_014936	NP_055751	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	125	Extracellular (Potential).					integral to membrane	hydrolase activity			ovary(3)|skin(1)	4						GACCAATCAGCTTCAGGAAAA	0.418													22	94					0	0	0.002780	0	0
RCAN2	10231	broad.mit.edu	37	6	46293132	46293132	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:46293132T>G	uc003oyb.1	-	1	400	c.85A>C	c.(85-87)AAG>CAG	p.K29Q	RCAN2_uc003oyc.1_Intron|RCAN2_uc003oyd.1_Intron	NM_005822	NP_005813	Q14206	RCAN2_HUMAN	Down syndrome critical region gene 1-like 1	29					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding				0						GTGCATACCTTAACCTCCTGA	0.438													11	37					0	0	0.008291	0	0
PGK2	5232	broad.mit.edu	37	6	49754132	49754132	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:49754132G>A	uc003ozu.2	-	1	876	c.769C>T	c.(769-771)CTG>TTG	p.L257L		NM_138733	NP_620061	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	257					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			ovary(1)	1	Lung NSC(77;0.0402)					TCATCAAACAGGGAAGCACCA	0.393													38	61					0	0	0.004289	0	0
PGK2	5232	broad.mit.edu	37	6	49754646	49754646	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:49754646G>A	uc003ozu.2	-	1	362	c.255C>T	c.(253-255)CTC>CTT	p.L85L		NM_138733	NP_620061	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	85					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			ovary(1)	1	Lung NSC(77;0.0402)					GCAAGGATTTGAGCTCAACAG	0.512													20	59					0	0	0.001523	0	0
PGK2	5232	broad.mit.edu	37	6	49754671	49754671	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:49754671G>A	uc003ozu.2	-	1	337	c.230C>T	c.(229-231)TCC>TTC	p.S77F		NM_138733	NP_620061	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	77					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			ovary(1)	1	Lung NSC(77;0.0402)					AGGTGCTAAGGAATATTTGTC	0.502													31	51					0	0	0.002445	0	0
DEFB110	245913	broad.mit.edu	37	6	49989597	49989597	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:49989597G>A	uc003pac.2	-	1	98	c.52C>T	c.(52-54)CCA>TCA	p.P18S	DEFB110_uc011dwr.1_Missense_Mutation_p.P18S	NM_001037497	NP_001032586	Q30KQ9	DB110_HUMAN	beta-defensin 110 isoform a	18					defense response to bacterium	extracellular region				ovary(1)	1	Lung NSC(77;0.042)					ATATTACCTGGTAAAATTGTG	0.299													13	28					0	0	0.004007	0	0
DEFB112	245915	broad.mit.edu	37	6	50016297	50016297	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:50016297G>A	uc011dws.1	-	1	68	c.68C>T	c.(67-69)TCC>TTC	p.S23F		NM_001037498	NP_001032587	Q30KQ8	DB112_HUMAN	beta-defensin 112 precursor	23					defense response to bacterium	extracellular region				central_nervous_system(1)	1	Lung NSC(77;0.042)					AAATATTGTGGAAGATGTATT	0.333													18	63					0	0	0.001523	0	0
TFAP2D	83741	broad.mit.edu	37	6	50696949	50696949	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:50696949G>A	uc003paf.2	+	5	1319	c.807G>A	c.(805-807)TTG>TTA	p.L269L	TFAP2D_uc011dwt.1_RNA	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 beta-like 1	269							DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|breast(1)	7	Lung NSC(77;0.0334)					GAGAGAAATTGGATAGGCTTG	0.393													34	76					0	0	0.005524	0	0
LRRC1	55227	broad.mit.edu	37	6	53743805	53743805	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:53743805C>T	uc003pcd.1	+	3	569	c.292C>T	c.(292-294)CCA>TCA	p.P98S		NM_018214	NP_060684	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	98	LRR 4.					cytoplasm|membrane				ovary(1)	1	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		TCCTGAAATTCCAGAAAGCAT	0.393													4	19					0	0	0.000248	0	0
GFRAL	389400	broad.mit.edu	37	6	55196520	55196520	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:55196520G>A	uc003pcm.1	+	2	116	c.30G>A	c.(28-30)GGG>GGA	p.G10G		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like precursor	10						integral to membrane	receptor activity			ovary(1)|breast(1)	2	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AAGCTATGGGGTTAAGCTTGG	0.323													12	37					0	0	0.002450	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55406863	55406863	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:55406863C>T	uc003pcn.2	-	3	433	c.274G>A	c.(274-276)GAA>AAA	p.E92K	HMGCLL1_uc003pco.2_Missense_Mutation_p.E62K|HMGCLL1_uc010jzx.2_5'UTR|HMGCLL1_uc011dxc.1_Missense_Mutation_p.E62K|HMGCLL1_uc011dxd.1_Missense_Mutation_p.E62K|HMGCLL1_uc011dxe.1_Missense_Mutation_p.E62K|HMGCLL1_uc003pcp.2_Missense_Mutation_p.E62K	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-Coenzyme A	92							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			skin(2)|ovary(1)|pancreas(1)	4	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			ACTACCTTTTCATTCTGCAAT	0.313													6	26					0	0	0.004482	0	0
COL21A1	81578	broad.mit.edu	37	6	56035908	56035908	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:56035908C>T	uc003pcs.2	-	4	891	c.659G>A	c.(658-660)CGA>CAA	p.R220Q	COL21A1_uc003pct.1_RNA|COL21A1_uc011dxi.1_Missense_Mutation_p.R220Q|COL21A1_uc003pcu.1_Missense_Mutation_p.R220Q	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1 precursor	220					cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(2)	2	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CACTGGAATTCGTGTTGGACA	0.323													34	93					0	0	0.002222	0	0
DST	667	broad.mit.edu	37	6	56479241	56479242	+	Missense_Mutation	DNP	GG	TA	TA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:56479241_56479242GG>TA	uc003pdf.2	-	36	4899_4900	c.4871_4872CC>TA	c.(4870-4872)GCC>GTA	p.A1624V	DST_uc003pcz.3_Missense_Mutation_p.A1446V|DST_uc011dxj.1_Missense_Mutation_p.A1475V|DST_uc011dxk.1_Missense_Mutation_p.A1486V|DST_uc003pcy.3_Missense_Mutation_p.A1120V|DST_uc003pdb.2_Missense_Mutation_p.A1120V	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GCAATTCTTTGGCTTTTTCAAC	0.361													17	25					0	0	0.004672	0	0
DST	667	broad.mit.edu	37	6	56501404	56501404	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:56501404A>C	uc003pdf.2	-	22	2940	c.2912T>G	c.(2911-2913)CTC>CGC	p.L971R	DST_uc003pcz.3_Missense_Mutation_p.L793R|DST_uc011dxj.1_Missense_Mutation_p.L822R|DST_uc011dxk.1_Missense_Mutation_p.L833R|DST_uc003pcy.3_Missense_Mutation_p.L467R|DST_uc003pdb.2_Missense_Mutation_p.L467R|DST_uc003pdc.3_Missense_Mutation_p.L467R|DST_uc003pdd.3_Missense_Mutation_p.L467R	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	793	Spectrin 1.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ACACTGGCAGAGCTGTAAGAT	0.443													31	92					0	0	0.002836	0	0
LGSN	51557	broad.mit.edu	37	6	63990070	63990070	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:63990070G>A	uc003peh.2	-	4	1420	c.1386C>T	c.(1384-1386)GCC>GCT	p.A462A	LGSN_uc003pei.2_3'UTR	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase	462					glutamine biosynthetic process		glutamate-ammonia ligase activity			skin(2)	2					L-Glutamic Acid(DB00142)	GTGCCACAAGGGCATCTTCTA	0.428													22	43					0	0	0.002299	0	0
BAI3	577	broad.mit.edu	37	6	70070979	70070979	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:70070979A>C	uc003pev.3	+	29	4262	c.3814A>C	c.(3814-3816)AAA>CAA	p.K1272Q	BAI3_uc010kak.2_Missense_Mutation_p.K1272Q|BAI3_uc011dxx.1_Missense_Mutation_p.K478Q	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1272	Cytoplasmic (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				ATGTTTGAAAAAAGAAAATAG	0.408													15	38					0	0	0.004007	0	0
COL19A1	1310	broad.mit.edu	37	6	70890386	70890386	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:70890386C>T	uc003pfc.1	+	44	2863	c.2746C>T	c.(2746-2748)CCT>TCT	p.P916S		NM_001858	NP_001849	Q14993	COJA1_HUMAN	alpha 1 type XIX collagen precursor	916	Triple-helical region 5 (COL5).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			ovary(2)|breast(2)	4						TATAGGTTTCCCTGGACCAGA	0.408													5	43					0	0	0.001168	0	0
OGFRL1	79627	broad.mit.edu	37	6	72006410	72006410	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:72006410C>T	uc003pfx.1	+	6	745	c.582C>T	c.(580-582)TTC>TTT	p.F194F		NM_024576	NP_078852	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	194						membrane	receptor activity				0						TTAGAAGATTCCTCCTGGCTT	0.333													13	36					0	0	0.001855	0	0
OOEP	441161	broad.mit.edu	37	6	74079487	74079487	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:74079487G>A	uc003pgu.3	-	1	29	c.29C>T	c.(28-30)TCC>TTC	p.S10F	OOEP_uc003pgv.3_Intron	NM_001080507	NP_001073976	A6NGQ2	OOEP_HUMAN	oocyte expressed protein homolog	10						cytoplasm					0						GCCCCGCTGGGACTCAGCGGC	0.662													22	57					0	0	0.004656	0	0
MYO6	4646	broad.mit.edu	37	6	76550387	76550387	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:76550387T>A	uc003pih.1	+	8	918	c.639T>A	c.(637-639)CAT>CAA	p.H213Q	MYO6_uc003pig.1_Missense_Mutation_p.H213Q|MYO6_uc003pii.1_Missense_Mutation_p.H213Q	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	myosin VI	213	Myosin head-like.				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			kidney(1)|pancreas(1)	2		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		TAGAAATACATTTTAATGAAA	0.373													19	27					0	0	0.006122	0	0
IMPG1	3617	broad.mit.edu	37	6	76660395	76660395	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:76660395C>T	uc003pik.1	-	13	1838	c.1708G>A	c.(1708-1710)GGC>AGC	p.G570S		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	570	SEA 2.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				AGCTCTCGGCCCTTGGGGGCA	0.498													26	48					0	0	0.007291	0	0
RWDD2A	112611	broad.mit.edu	37	6	83904175	83904175	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:83904175C>T	uc003pjx.3	+	2	276	c.5C>T	c.(4-6)TCT>TTT	p.S2F	PGM3_uc003pjv.2_5'Flank|PGM3_uc003pjw.2_5'Flank|PGM3_uc011dyz.1_5'Flank|RWDD2A_uc011dza.1_Intron	NM_033411	NP_219479	Q9UIY3	RWD2A_HUMAN	RWD domain containing 2A	2											0		all_cancers(76;2.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00217)		BRCA - Breast invasive adenocarcinoma(397;0.045)		GGCAACATGTCTGCTTCGGTG	0.478													6	19					0	0	0.003080	0	0
ME1	4199	broad.mit.edu	37	6	84108094	84108094	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:84108094C>T	uc003pjy.2	-	3	460	c.354G>A	c.(352-354)CGG>CGA	p.R118R	ME1_uc011dzb.1_Silent_p.R43R|ME1_uc011dzc.1_Intron	NM_002395	NP_002386	P48163	MAOX_HUMAN	cytosolic malic enzyme 1	118					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding			upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	ACCTTGGCTTCCGAAACACCA	0.294													9	26					0	0	0.000978	0	0
SNAP91	9892	broad.mit.edu	37	6	84292059	84292059	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:84292059G>A	uc011dze.1	-	22	2348	c.2031C>T	c.(2029-2031)TTC>TTT	p.F677F	SNAP91_uc011dzd.1_Silent_p.F180F|SNAP91_uc003pkb.2_Silent_p.F586F|SNAP91_uc003pkc.2_Silent_p.F647F|SNAP91_uc003pkd.2_Silent_p.F370F|SNAP91_uc003pka.2_Silent_p.F675F	NM_014841	NP_055656	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa homolog	677					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)		AAGGCGCCATGAAAGAACCCC	0.418													11	21					0	0	0.001368	0	0
SNAP91	9892	broad.mit.edu	37	6	84417530	84417530	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:84417530T>A	uc011dze.1	-	2	434	c.117A>T	c.(115-117)AAA>AAT	p.K39N	SNAP91_uc003pkb.2_5'UTR|SNAP91_uc003pkc.2_Missense_Mutation_p.K39N|SNAP91_uc003pkd.2_Missense_Mutation_p.K39N|SNAP91_uc003pka.2_Missense_Mutation_p.K39N|SNAP91_uc011dzf.1_5'UTR	NM_014841	NP_055656	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa homolog	39	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)		CCAGGTGCTTTTTCTTGGGGC	0.557													18	72					0	0	0.001523	0	0
CNR1	1268	broad.mit.edu	37	6	88854124	88854124	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:88854124G>A	uc011dzq.1	-	2	4433	c.870C>T	c.(868-870)ATC>ATT	p.I290I	CNR1_uc010kbz.2_Silent_p.I290I|CNR1_uc011dzr.1_Silent_p.I290I|CNR1_uc011dzs.1_Silent_p.I290I|CNR1_uc003pmq.3_Silent_p.I290I|CNR1_uc011dzt.1_Silent_p.I290I|CNR1_uc010kca.2_Silent_p.I257I	NM_001160260	NP_001153732	P21554	CNR1_HUMAN	cannabinoid receptor 1 isoform a	290	Helical; Name=5; (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			skin(2)	2		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	ACGCATACACGATGAACAGAA	0.507													9	32					0	0	0.006214	0	0
CNR1	1268	broad.mit.edu	37	6	88854820	88854820	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:88854820G>A	uc011dzq.1	-	2	3737	c.174C>T	c.(172-174)TTC>TTT	p.F58F	CNR1_uc010kbz.2_Silent_p.F58F|CNR1_uc011dzr.1_Silent_p.F58F|CNR1_uc011dzs.1_Silent_p.F58F|CNR1_uc003pmq.3_Silent_p.F58F|CNR1_uc011dzt.1_Silent_p.F58F|CNR1_uc010kca.2_Silent_p.F25F	NM_001160260	NP_001153732	P21554	CNR1_HUMAN	cannabinoid receptor 1 isoform a	58	Extracellular (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			skin(2)	2		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	TCTTCTCTTGGAAGGGACTTC	0.458													6	33					0	0	0.001984	0	0
GABRR2	2570	broad.mit.edu	37	6	89967665	89967665	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:89967665G>A	uc003pnb.2	-	9	1205	c.1197C>T	c.(1195-1197)ACC>ACT	p.T399T	GABRR2_uc011dzx.1_Silent_p.T275T	NM_002043	NP_002034	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) receptor, rho 2	399	Cytoplasmic (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity				0		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		CCAGCATCATGGTTTTTGAAT	0.512													10	26					0	0	0.001368	0	0
MAP3K7	6885	broad.mit.edu	37	6	91233485	91233485	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:91233485G>A	uc003pnz.1	-	14	1536	c.1374C>T	c.(1372-1374)TCC>TCT	p.S458S	MAP3K7_uc003pny.1_5'UTR|MAP3K7_uc003poa.1_Silent_p.S458S|MAP3K7_uc003pob.1_Silent_p.S431S|MAP3K7_uc003poc.1_Silent_p.S431S	NM_145331	NP_663304	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	458					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding|protein binding			ovary(2)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)	6		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		CACTGGGACTGGATGACCTAC	0.433													11	38					0	0	0.000978	0	0
EPHA7	2045	broad.mit.edu	37	6	94120643	94120643	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:94120643C>T	uc003poe.2	-	3	649	c.408G>A	c.(406-408)AGG>AGA	p.R136R	EPHA7_uc003pof.2_Silent_p.R136R|EPHA7_uc011eac.1_Silent_p.R136R|EPHA7_uc003pog.3_Silent_p.R136R	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	ephrin receptor EphA7 precursor	136	Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1)	28		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CTCTTATATTCCTGCCAGTGT	0.383													32	62					0	0	0.002096	0	0
EPHA7	2045	broad.mit.edu	37	6	94129030	94129030	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:94129030C>T	uc003poe.2	-	1	271	c.30G>A	c.(28-30)TGG>TGA	p.W10*	EPHA7_uc003pof.2_Nonsense_Mutation_p.W10*|EPHA7_uc011eac.1_Nonsense_Mutation_p.W10*|EPHA7_uc003pog.3_Nonsense_Mutation_p.W10*	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	ephrin receptor EphA7 precursor	10						integral to plasma membrane	ATP binding|ephrin receptor activity			lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1)	28		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		ATAAAATAATCCATGAAGGGT	0.448													18	48					0	0	0.001523	0	0
FUT9	10690	broad.mit.edu	37	6	96651530	96651531	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:96651530_96651531CC>TT	uc003pop.3	+	3	840_841	c.499_500CC>TT	c.(499-501)CCT>TTT	p.P167F		NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3)	167	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			skin(4)|ovary(1)	5		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		TATCCAAGTGCCTTATGGCTTC	0.46													10	31					0	0	0.004672	0	0
FHL5	9457	broad.mit.edu	37	6	97052698	97052698	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:97052698G>A	uc003pos.1	+	4	637	c.232G>A	c.(232-234)GAA>AAA	p.E78K	FHL5_uc003pot.1_Missense_Mutation_p.E78K	NM_020482	NP_065228	Q5TD97	FHL5_HUMAN	activator of cAMP-responsive element modulator	78	LIM zinc-binding 1.					nucleus	zinc ion binding			ovary(2)	2		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		CTCTTTGGTGGAAAAGCCTTT	0.468													19	62					0	0	0.001882	0	0
NDUFAF4	29078	broad.mit.edu	37	6	97339081	97339081	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:97339081G>A	uc003pow.2	-	3	517	c.427C>T	c.(427-429)CAG>TAG	p.Q143*	NDUFAF4_uc003pov.2_RNA	NM_014165	NP_054884	Q9P032	NDUF4_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	143					mitochondrial respiratory chain complex I assembly	mitochondrial membrane	calmodulin binding			ovary(1)	1						TGTTCTAACTGGTATTCCTGC	0.353													9	43					0	0	0.000978	0	0
FBXL4	26235	broad.mit.edu	37	6	99353320	99353320	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:99353320G>A	uc003ppf.1	-	5	1443	c.1085C>T	c.(1084-1086)TCT>TTT	p.S362F	FBXL4_uc003ppg.1_Missense_Mutation_p.S362F|FBXL4_uc003pph.1_5'UTR|FBXL4_uc010kcp.2_5'UTR	NM_012160	NP_036292	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	362					ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex				skin(2)	2		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		TCCTGCAACAGAGATGAAGCC	0.408													30	98					0	0	0.002836	0	0
SIM1	6492	broad.mit.edu	37	6	100895251	100895251	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:100895251G>A	uc003pqj.3	-	8	1098	c.891C>T	c.(889-891)TTC>TTT	p.F297F	SIM1_uc010kcu.2_Silent_p.F297F	NM_005068	NP_005059	P81133	SIM1_HUMAN	single-minded homolog 1	297	PAC.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(4)	4		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GTTTCGCCAGGAACCTGTAGT	0.592													8	31					0	0	0.006214	0	0
GRIK2	2898	broad.mit.edu	37	6	102266321	102266321	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:102266321C>T	uc003pqp.3	+	9	1529	c.1280C>T	c.(1279-1281)TCC>TTC	p.S427F	GRIK2_uc003pqn.2_Missense_Mutation_p.S427F|GRIK2_uc003pqo.3_Missense_Mutation_p.S427F|GRIK2_uc010kcw.2_Missense_Mutation_p.S427F	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	427	Extracellular (Potential).				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|pancreas(1)|breast(1)|skin(1)	5		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	ATCACAGATTCCTTATCCAAT	0.368													7	15					0	0	0.003080	0	0
GRIK2	2898	broad.mit.edu	37	6	102376335	102376335	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:102376335G>A	uc003pqp.3	+	13	2162	c.1913G>A	c.(1912-1914)GGC>GAC	p.G638D	GRIK2_uc003pqo.3_Missense_Mutation_p.G638D|GRIK2_uc010kcw.2_Missense_Mutation_p.G638D	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	638	Helical; (Potential).				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|pancreas(1)|breast(1)|skin(1)	5		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	ATAGTGGGAGGCATTTGGTGG	0.378													16	57					0	0	0.004990	0	0
PRDM1	639	broad.mit.edu	37	6	106547183	106547183	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:106547183C>T	uc003prd.2	+	4	654	c.420C>T	c.(418-420)TCC>TCT	p.S140S	PRDM1_uc003pre.2_Silent_p.S6S	NM_001198	NP_001189	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain isoform	140	SET.				negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(54)|ovary(1)|skin(1)	56	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		AGATCTATTCCAGAGGGGAGC	0.498			D|N|Mis|F|S		DLBCL								24	56					0	0	0.005443	0	0
QRSL1	55278	broad.mit.edu	37	6	107097034	107097034	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:107097034C>T	uc003prm.2	+	5	631	c.515C>T	c.(514-516)TCA>TTA	p.S172L	QRSL1_uc003prl.2_Missense_Mutation_p.S172L	NM_018292	NP_060762	Q9H0R6	QRSL1_HUMAN	glutaminyl-tRNA synthase	172				S -> P (in Ref. 1; CAB66614).	translation		ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor				0	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248)	Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152)	BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176)		GGAGGAAGCTCAGGTGGGAGT	0.428													11	50					0	0	0.001855	0	0
ARMC2	84071	broad.mit.edu	37	6	109274309	109274309	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:109274309C>T	uc003pss.3	+	13	1844	c.1670C>T	c.(1669-1671)TCC>TTC	p.S557F	ARMC2_uc011eao.1_Missense_Mutation_p.S392F	NM_032131	NP_115507	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	557	ARM 7.						binding				0		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		GAACAATTTTCCAAAGAGAAA	0.468													8	18					0	0	0.003080	0	0
REV3L	5980	broad.mit.edu	37	6	111678278	111678278	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:111678278C>T	uc003puy.3	-	18	7446	c.7123G>A	c.(7123-7125)GAA>AAA	p.E2375K	REV3L_uc003pux.3_Missense_Mutation_p.E2297K|REV3L_uc003puz.3_Missense_Mutation_p.E2297K|REV3L_uc003pva.1_RNA	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	2375					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TAGGTGACTTCGAGTCCTGTA	0.269								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					19	111					0	0	0.002780	0	0
RSPH4A	345895	broad.mit.edu	37	6	116943957	116943958	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:116943957_116943958CC>TT	uc003pxe.2	+	2	858_859	c.713_714CC>TT	c.(712-714)ACC>ATT	p.T238I	RSPH4A_uc010kee.2_Missense_Mutation_p.T238I	NM_001010892	NP_001010892	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A isoform 1	238					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke					0						AATATGTTGACCAAGATATTAA	0.312									Kartagener_syndrome				30	100					0	0	0.004672	0	0
GPRC6A	222545	broad.mit.edu	37	6	117121795	117121795	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:117121795G>A	uc003pxj.1	-	4	1522	c.1500C>T	c.(1498-1500)GTC>GTT	p.V500V	GPRC6A_uc003pxk.1_Silent_p.V325V|GPRC6A_uc003pxl.1_Intron	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6,	500	Extracellular (Potential).				response to amino acid stimulus		G-protein coupled receptor activity			ovary(4)|skin(2)	6		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GGATGATGAAGACATCATTCT	0.388													18	75					0	0	0.001882	0	0
GPRC6A	222545	broad.mit.edu	37	6	117150119	117150119	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:117150119G>A	uc003pxj.1	-	1	80	c.58C>T	c.(58-60)CCT>TCT	p.P20S	GPRC6A_uc003pxk.1_Missense_Mutation_p.P20S|GPRC6A_uc003pxl.1_Missense_Mutation_p.P20S	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6,	20	Extracellular (Potential).				response to amino acid stimulus		G-protein coupled receptor activity			ovary(4)|skin(2)	6		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GTCTGGCAAGGCTGTGAAGTA	0.393													10	29					0	0	0.006214	0	0
C6orf204	387119	broad.mit.edu	37	6	118887280	118887280	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:118887280G>A	uc003pxz.1	-	3	1020	c.432C>T	c.(430-432)TCC>TCT	p.S144S	C6orf204_uc003pya.1_Silent_p.S147S|C6orf204_uc003pyb.2_Silent_p.S144S|C6orf204_uc011ebj.1_Silent_p.S42S|C6orf204_uc003pyc.2_Silent_p.S147S|C6orf204_uc011ebl.1_Silent_p.S42S	NM_001042475	NP_001035940	Q5SZL2	CF204_HUMAN	chromosome 6 open reading frame 204 isoform a	144						centrosome				breast(1)	1		all_cancers(87;0.0814)|all_epithelial(87;0.115)		GBM - Glioblastoma multiforme(226;0.0114)|all cancers(137;0.035)|OV - Ovarian serous cystadenocarcinoma(136;0.0618)		TCATGTCTAGGGAAGAGTCCT	0.498													20	32					0	0	0.007413	0	0
STL	7955	broad.mit.edu	37	6	125231794	125231794	+	RNA	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:125231794G>A	uc003pzq.2	-	7		c.2940C>T				NR_026876				Homo sapiens mRNA; cDNA DKFZp451I132 (from clone DKFZp451I132).												0						actctagttagagaagcagag	0.164			T	ETV6	B-ALL								4	22					0	0	0.000248	0	0
C6orf58	352999	broad.mit.edu	37	6	127912715	127912715	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:127912715T>G	uc003qbh.2	+	6	953	c.941T>G	c.(940-942)GTA>GGA	p.V314G		NM_001010905	NP_001010905	Q6P5S2	CF058_HUMAN	hypothetical protein LOC352999 precursor	314						extracellular region					0				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		AAATCTAATGTATATAGAGAT	0.274													8	32					0	0	0.006214	0	0
THEMIS	387357	broad.mit.edu	37	6	128150684	128150684	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:128150684G>A	uc003qbi.2	-	4	965	c.646C>T	c.(646-648)CCT>TCT	p.P216S	THEMIS_uc010kfa.2_Missense_Mutation_p.P119S|THEMIS_uc011ebt.1_Missense_Mutation_p.P216S|THEMIS_uc010kfb.2_Missense_Mutation_p.P181S	NM_001010923	NP_001010923	Q8N1K5	THMS1_HUMAN	thymocyte selection pathway associated isoform	216	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				ovary(2)|skin(2)	4						AAGTCTTTAGGAAATGGATTC	0.363													24	61					0	0	0.003954	0	0
PTPRK	5796	broad.mit.edu	37	6	128294288	128294288	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:128294288C>T	uc003qbk.2	-	29	4512	c.4145G>A	c.(4144-4146)CGA>CAA	p.R1382Q	PTPRK_uc003qbj.2_Missense_Mutation_p.R1383Q|PTPRK_uc010kfc.2_Missense_Mutation_p.R1389Q|PTPRK_uc011ebu.1_Missense_Mutation_p.R1405Q	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1382	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CATGCCACTTCGCCCGCCACC	0.433													25	67					0	0	0.003330	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762527	130762527	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:130762527G>A	uc003qca.2	+	3	1831	c.960G>A	c.(958-960)AGG>AGA	p.R320R	TMEM200A_uc010kfh.2_Silent_p.R320R|TMEM200A_uc010kfi.2_Silent_p.R320R|TMEM200A_uc003qcb.2_Silent_p.R320R	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	transmembrane protein 200A	320	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GTAGGTCAAGGAATTTGTCAA	0.428													20	32					0	0	0.001882	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762546	130762546	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:130762546C>T	uc003qca.2	+	3	1850	c.979C>T	c.(979-981)CTT>TTT	p.L327F	TMEM200A_uc010kfh.2_Missense_Mutation_p.L327F|TMEM200A_uc010kfi.2_Missense_Mutation_p.L327F|TMEM200A_uc003qcb.2_Missense_Mutation_p.L327F	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	transmembrane protein 200A	327	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		AATGGATTCCCTTGTGGTTCC	0.438													14	33					0	0	0.004007	0	0
ENPP3	5169	broad.mit.edu	37	6	132045206	132045206	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:132045206G>T	uc003qcu.3	+	20	2120	c.1773G>T	c.(1771-1773)CAG>CAT	p.Q591H	ENPP3_uc010kfq.2_RNA|ENPP3_uc003qcv.2_Missense_Mutation_p.Q591H	NM_005021	NP_005012	O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	591	Extracellular (Potential).				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			ovary(3)|skin(1)	4	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		AAGTGAATCAGATGCTAAATC	0.373													12	21					1.5842e-08	2.0615e-08	0.001855	1	0
TAAR8	83551	broad.mit.edu	37	6	132873904	132873904	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:132873904C>T	uc011ecj.1	+	1	73	c.73C>T	c.(73-75)CCC>TCC	p.P25S		NM_053278	NP_444508	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	25	Extracellular (Potential).					plasma membrane	G-protein coupled receptor activity			ovary(1)	1	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		TATTGAAACTCCCTATTCTCC	0.428													14	75					0	0	0.001855	0	0
TAAR6	319100	broad.mit.edu	37	6	132891844	132891844	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:132891844C>T	uc011eck.1	+	1	384	c.384C>T	c.(382-384)ATC>ATT	p.I128I		NM_175067	NP_778237	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	128	Helical; Name=3; (Potential).					plasma membrane	G-protein coupled receptor activity			ovary(2)|skin(1)	3	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		TCATCTCCATCGACAGGTACA	0.483													48	168					0	0	0.003610	0	0
EYA4	2070	broad.mit.edu	37	6	133767836	133767836	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:133767836C>T	uc003qec.3	+	4	610	c.152C>T	c.(151-153)TCC>TTC	p.S51F	EYA4_uc011ecq.1_Missense_Mutation_p.S51F|EYA4_uc011ecr.1_Missense_Mutation_p.S51F|EYA4_uc003qed.3_Missense_Mutation_p.S51F|EYA4_uc003qee.3_Missense_Mutation_p.S51F|EYA4_uc011ecs.1_Missense_Mutation_p.S51F|uc003qef.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	eyes absent 4 isoform a	51					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			large_intestine(2)	2	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CCAGGTAGCTCCAAACTGGAA	0.438													14	38					0	0	0.001855	0	0
SLC2A12	154091	broad.mit.edu	37	6	134349893	134349893	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:134349893G>A	uc003qem.1	-	2	1241	c.1070C>T	c.(1069-1071)TCG>TTG	p.S357L		NM_145176	NP_660159	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose	357	Helical; (Potential).					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			ovary(1)	1	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		GGTCACCAACGAAGCTGCCAT	0.493													14	38					0	0	0.002450	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599771	136599771	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:136599771C>T	uc003qgx.1	-	4	501	c.248G>A	c.(247-249)GGA>GAA	p.G83E	BCLAF1_uc003qgw.1_Missense_Mutation_p.G83E|BCLAF1_uc003qgy.1_Missense_Mutation_p.G81E|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.G81E	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1 isoform	83					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			ovary(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		ACCTCCTCCTCCTTGATAATA	0.453													17	99					0	0	0.007413	0	0
KIAA1244	57221	broad.mit.edu	37	6	138584555	138584555	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:138584555G>A	uc003qhu.2	+	12	1935	c.1935G>A	c.(1933-1935)CGG>CGA	p.R645R		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	brefeldin A-inhibited guanine	645	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)|skin(1)	2	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		AGACACCCCGGGACTGCCTAG	0.577													29	44					0	0	0.008361	0	0
NMBR	4829	broad.mit.edu	37	6	142399709	142399709	+	Missense_Mutation	SNP	C	G	G	rs145581958		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:142399709C>G	uc003qiu.2	-	2	895	c.754G>C	c.(754-756)GAA>CAA	p.E252Q		NM_002511	NP_002502	P28336	NMBR_HUMAN	neuromedin B receptor	252	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			central_nervous_system(3)|breast(1)	4	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		TTGGTATGTTCATTGTATTCT	0.353													9	25					0	0	0.000978	0	0
VTA1	51534	broad.mit.edu	37	6	142525151	142525151	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:142525151C>T	uc003qiw.2	+	7	742	c.727C>T	c.(727-729)CCA>TCA	p.P243S	VTA1_uc011edt.1_RNA|VTA1_uc011edu.1_Intron	NM_016485	NP_057569	Q9NP79	VTA1_HUMAN	Vps20-associated 1 homolog	243	Interaction with VPS4B (By similarity).				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding				0	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		CCAACCTACTCCACAGACTAT	0.393													12	30					0	0	0.003163	0	0
PEX3	8504	broad.mit.edu	37	6	143806294	143806294	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:143806294C>T	uc003qjl.2	+	11	1209	c.947C>T	c.(946-948)TCC>TTC	p.S316F		NM_003630	NP_003621	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3	316	Cytoplasmic (Potential).				protein import into peroxisome membrane|transmembrane transport	integral to peroxisomal membrane	protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)		TTCAGTCTTTCCAGTGTCAGC	0.303													35	90					0	0	0.008740	0	0
PHACTR2	9749	broad.mit.edu	37	6	144074921	144074921	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:144074921C>T	uc003qjq.3	+	4	423	c.293C>T	c.(292-294)TCA>TTA	p.S98L	PHACTR2_uc010khh.2_Missense_Mutation_p.S98L|PHACTR2_uc010khi.2_Missense_Mutation_p.S109L|PHACTR2_uc003qjr.3_Missense_Mutation_p.S109L	NM_014721	NP_055536	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2 isoform 3	98							actin binding|protein phosphatase inhibitor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		TTTGAAAATTCAAACGGGCAC	0.383													6	17					0	0	0.001168	0	0
PLAGL1	5325	broad.mit.edu	37	6	144263309	144263309	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:144263309C>T	uc003qjv.2	-	3	1910	c.644G>A	c.(643-645)AGC>AAC	p.S215N	PLAGL1_uc003qjx.2_Missense_Mutation_p.S215N|PLAGL1_uc003qjy.2_Missense_Mutation_p.S215N|PLAGL1_uc010khl.2_Missense_Mutation_p.S215N|PLAGL1_uc010khm.2_Missense_Mutation_p.S215N|PLAGL1_uc003qjz.2_Missense_Mutation_p.S215N|PLAGL1_uc003qka.2_Missense_Mutation_p.S215N|PLAGL1_uc003qkb.2_Missense_Mutation_p.S163N|PLAGL1_uc003qkc.2_Missense_Mutation_p.S215N|PLAGL1_uc003qkd.2_Missense_Mutation_p.S163N|PLAGL1_uc003qke.2_Missense_Mutation_p.S215N|PLAGL1_uc003qkf.2_Missense_Mutation_p.S215N|PLAGL1_uc003qkg.2_Missense_Mutation_p.S163N|PLAGL1_uc003qkh.2_Missense_Mutation_p.S215N|PLAGL1_uc003qki.2_Missense_Mutation_p.S163N|PLAGL1_uc003qkj.2_Missense_Mutation_p.S215N|PLAGL1_uc003qkk.2_Missense_Mutation_p.S163N|PLAGL1_uc003qkl.2_Missense_Mutation_p.S163N|PLAGL1_uc003qkm.2_Missense_Mutation_p.S215N|PLAGL1_uc010khn.2_Missense_Mutation_p.S215N|PLAGL1_uc003qkn.2_Missense_Mutation_p.S163N|PLAGL1_uc003qko.2_Missense_Mutation_p.S215N|PLAGL1_uc003qkp.2_Missense_Mutation_p.S163N|PLAGL1_uc003qjw.2_Missense_Mutation_p.S163N	NM_002656	NP_002647	Q9UM63	PLAL1_HUMAN	pleiomorphic adenoma gene-like 1 isoform 1	215					cell cycle arrest|induction of apoptosis|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)		GGTCTGCAAGCTCTCTTTCAT	0.552											OREG0017707	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	125	281					0	0	0.003610	0	0
STX11	8676	broad.mit.edu	37	6	144507918	144507918	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:144507918C>T	uc003qks.3	+	2	346	c.154C>T	c.(154-156)CAG>TAG	p.Q52*		NM_003764	NP_003755	O75558	STX11_HUMAN	syntaxin 11	52	Potential.				cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			ovary(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		CCGGGACATTCAGGATGAAAA	0.612									Familial_Hemophagocytic_Lymphohistiocytosis				5	15					0	0	0.000602	0	0
RAET1E	135250	broad.mit.edu	37	6	150211055	150211055	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:150211055G>A	uc003qnl.1	-	2	372	c.312C>T	c.(310-312)CTC>CTT	p.L104L	uc003qni.1_Intron|RAET1E_uc003qnj.2_Silent_p.L104L|RAET1E_uc003qnk.1_Silent_p.L68L|RAET1E_uc010kih.1_Intron	NM_139165	NP_631904	Q8TD07	N2DL4_HUMAN	retinoic acid early transcript 1E precursor	104	MHC class I alpha-1 like.|Extracellular (Potential).				antigen processing and presentation|immune response|regulation of immune response	integral to membrane|MHC class I protein complex	protein binding				0		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		TGTCACAAAGGAGCATCCTGA	0.542													18	59					0	0	0.002299	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151161257	151161257	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:151161257C>T	uc003qny.1	+	17	3695	c.3383C>T	c.(3382-3384)TCT>TTT	p.S1128F	PLEKHG1_uc011eem.1_Missense_Mutation_p.S1187F	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G	1128					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GCAGCTTGCTCTGTGCCTTCT	0.502													17	51					0	0	0.007413	0	0
SYNE1	23345	broad.mit.edu	37	6	152443788	152443788	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:152443788G>A	uc010kiw.2	-	146	26779	c.26177C>T	c.(26176-26178)TCC>TTC	p.S8726F	SYNE1_uc010kiv.2_Missense_Mutation_p.S3250F|SYNE1_uc003qos.3_Missense_Mutation_p.S3250F|SYNE1_uc003qot.3_Missense_Mutation_p.S8678F|SYNE1_uc003qou.3_Missense_Mutation_p.S8726F|SYNE1_uc003qop.3_Missense_Mutation_p.S911F|SYNE1_uc011eez.1_Silent_p.F908F|SYNE1_uc003qoq.3_Silent_p.F908F|SYNE1_uc003qor.3_Silent_p.F1629F	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8726	Ser-rich.|Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGAAAGGGAGGAATCGGAGCC	0.567										HNSCC(10;0.0054)			21	65					0	0	0.002780	0	0
ZDHHC14	79683	broad.mit.edu	37	6	157963732	157963732	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:157963732C>T	uc003qqt.2	+	2	858	c.361C>T	c.(361-363)CCA>TCA	p.P121S	ZDHHC14_uc003qqs.2_Missense_Mutation_p.P121S|ZDHHC14_uc010kjm.1_Missense_Mutation_p.P16S	NM_024630	NP_078906	Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14 isoform 1	121						integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)|skin(1)	2		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		CGGAGTCCTCCCACGAGCCAC	0.602													7	9					0	0	0.001984	0	0
TULP4	56995	broad.mit.edu	37	6	158910722	158910722	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:158910722C>T	uc003qrf.2	+	9	2946	c.1589C>T	c.(1588-1590)TCT>TTT	p.S530F	TULP4_uc003qrg.2_Missense_Mutation_p.S530F	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1	530					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		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)		GCCAAGAAATCTCCCAAAATC	0.463													21	28					0	0	0.002780	0	0
MAS1	4142	broad.mit.edu	37	6	160328409	160328409	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:160328409G>A	uc003qsz.2	+	1	436	c.422G>A	c.(421-423)CGA>CAA	p.R141Q		NM_002377	NP_002368	P04201	MAS_HUMAN	MAS1 oncogene	141	Cytoplasmic (Potential).				anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade	integral to plasma membrane	angiotensin type II receptor activity			ovary(2)|lung(2)	4		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)		ATCTGGTACCGATGCCATCGC	0.527													21	84					0	0	0.002299	0	0
SLC22A3	6581	broad.mit.edu	37	6	160828154	160828154	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:160828154C>T	uc003qti.2	+	3	642	c.615C>T	c.(613-615)TTC>TTT	p.F205F	SLC22A3_uc011efx.1_RNA	NM_021977	NP_068812	O75751	S22A3_HUMAN	solute carrier family 22 member 3	205						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			skin(2)|ovary(1)|central_nervous_system(1)	4		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		CACCAAACTTCCCTGTGTTTG	0.478													24	98					0	0	0.003954	0	0
PLG	5340	broad.mit.edu	37	6	161152120	161152120	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:161152120G>C	uc003qtm.3	+	11	1357	c.1294G>C	c.(1294-1296)GAT>CAT	p.D432H		NM_000301	NP_000292	P00747	PLMN_HUMAN	plasminogen	432	Kringle 4.	Omega-aminocarboxylic acids.			extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			skin(3)|ovary(1)	4				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TCCAGATGCCGATAAAGGCCC	0.512													8	57					0	0	0.003080	0	0
PLG	5340	broad.mit.edu	37	6	161160103	161160103	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:161160103C>T	uc003qtm.3	+	16	1944	c.1881C>T	c.(1879-1881)TCC>TCT	p.S627S		NM_000301	NP_000292	P00747	PLMN_HUMAN	plasminogen	627	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			skin(3)|ovary(1)	4				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TTTCTAGGTCCCCAAGGCCTT	0.507													24	46					0	0	0.006320	0	0
PLG	5340	broad.mit.edu	37	6	161173178	161173178	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:161173178C>T	uc003qtm.3	+	18	2220	c.2157C>T	c.(2155-2157)GCC>GCT	p.A719A		NM_000301	NP_000292	P00747	PLMN_HUMAN	plasminogen	719	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			skin(3)|ovary(1)	4				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TCAAGGAAGCCCAGCTCCCTG	0.468													14	33					0	0	0.002450	0	0
PDE10A	10846	broad.mit.edu	37	6	165832214	165832214	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:165832214C>T	uc003qun.2	-	12	1118	c.877G>A	c.(877-879)GAC>AAC	p.D293N	PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.D223N|PDE10A_uc003quo.2_Missense_Mutation_p.D303N	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	phosphodiesterase 10A isoform 2	293	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			ovary(3)|skin(2)	5		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	TTCTTATGGTCCACCTGGAAA	0.378													11	25					0	0	0.001855	0	0
UNC93A	54346	broad.mit.edu	37	6	167709555	167709555	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:167709555T>C	uc003qvq.2	+	3	480	c.305T>C	c.(304-306)CTC>CCC	p.L102P	UNC93A_uc003qvr.2_Missense_Mutation_p.L102P	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN	unc-93 homolog A isoform 1	102	Helical; (Potential).					integral to membrane|plasma membrane					0		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CTGCTGGGACTCGGGGCCGCC	0.567													11	26					0	0	0.001368	0	0
MLLT4	4301	broad.mit.edu	37	6	168325703	168325703	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:168325703G>A	uc003qwd.2	+	22	3149	c.3007G>A	c.(3007-3009)GAA>AAA	p.E1003K	MLLT4_uc003qwb.1_Missense_Mutation_p.E988K|MLLT4_uc003qwc.1_Missense_Mutation_p.E1004K|MLLT4_uc003qwg.1_Missense_Mutation_p.E313K	NM_001040001	NP_001035090	P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	1004					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TCTGAGGAAAGAACCTGAAAT	0.408			T	MLL	AL								15	40					0	0	0.008871	0	0
THBS2	7058	broad.mit.edu	37	6	169632808	169632808	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:169632808C>T	uc003qwt.2	-	13	2131	c.1883G>A	c.(1882-1884)GGG>GAG	p.G628E		NM_003247	NP_003238	P35442	TSP2_HUMAN	thrombospondin 2 precursor	628	EGF-like 2; calcium-binding (Potential).				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			ovary(5)	5		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GGGCTGGTTCCCTCTGTATCG	0.622													12	46					0	0	0.001855	0	0
WDR27	253769	broad.mit.edu	37	6	170013713	170013713	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:170013713G>A	uc003qwx.2	-	22	2783	c.2263C>T	c.(2263-2265)CTT>TTT	p.L755F	WDR27_uc003qwv.1_Intron|WDR27_uc010kkw.1_Missense_Mutation_p.L755F|WDR27_uc003qwy.2_Missense_Mutation_p.L628F			A2RRH5	WDR27_HUMAN	RecName: Full=WD repeat-containing protein 27;	725	WD 8.									pancreas(1)	1		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		GTCAGGAAAAGGTTATAAGCC	0.498													7	45					0	0	0.001984	0	0
TMEM184A	202915	broad.mit.edu	37	7	1586623	1586624	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:1586623_1586624CC>TT	uc003skv.3	-	9	1523_1524	c.1206_1207GG>AA	c.(1204-1209)CTGGAG>CTAAAG	p.E403K	TMEM184A_uc003skt.3_Missense_Mutation_p.E382K|TMEM184A_uc003skw.3_Missense_Mutation_p.E208K	NM_001097620	NP_001091089	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	403						integral to membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		ATCCGCTTCTCCAGGCTCCGGC	0.718													14	16					0	0	0.004672	0	0
EIF3B	8662	broad.mit.edu	37	7	2409303	2409304	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:2409303_2409304CC>TT	uc003slx.2	+	10	1683_1684	c.1600_1601CC>TT	c.(1600-1602)CCG>TTG	p.P534L	EIF3B_uc003sly.2_Missense_Mutation_p.P534L|EIF3B_uc003sma.2_Missense_Mutation_p.P262L	NM_003751	NP_003742	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3,	534					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity				0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		AGATAGGACTCCGAAAGGCACC	0.485													28	28					0	0	0.004672	0	0
SDK1	221935	broad.mit.edu	37	7	4014075	4014075	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:4014075C>T	uc003smx.2	+	13	2031	c.1892C>T	c.(1891-1893)TCC>TTC	p.S631F		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	631	Ig-like C2-type 6.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AAGGACGGGTCCCTTCTCATC	0.572													6	36					0	0	0.001984	0	0
FBXL18	80028	broad.mit.edu	37	7	5540617	5540617	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:5540617G>A	uc003soo.2	-	3	1377	c.1283C>T	c.(1282-1284)TCC>TTC	p.S428F	FBXL18_uc003son.3_Missense_Mutation_p.S428F	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	428										central_nervous_system(2)|ovary(1)	3		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		gcgcggcgcggAGTCAGCGAC	0.557													15	7					0	0	0.004007	0	0
ACTB	60	broad.mit.edu	37	7	5569212	5569212	+	Missense_Mutation	SNP	G	A	A	rs11546929		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:5569212G>A	uc003sos.3	-	1	113	c.77C>T	c.(76-78)GCC>GTC	p.A26V	ACTB_uc003sor.3_5'Flank|ACTB_uc003sot.3_Missense_Mutation_p.A26V|ACTB_uc003soq.3_5'UTR|ACTB_uc010ksy.2_Intron|ACTB_uc011jwi.1_5'Flank	NM_001101	NP_001092	P60709	ACTB_HUMAN	beta actin	26					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton				0		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		GGCCCGGGGGGCATCGTCGCC	0.721													13	20					0	0	0.001855	0	0
PMS2	5395	broad.mit.edu	37	7	6026544	6026544	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:6026544G>A	uc003spl.2	-	11	1939	c.1852C>T	c.(1852-1854)CTG>TTG	p.L618L	PMS2_uc003spj.2_Silent_p.L512L|PMS2_uc003spk.2_Silent_p.L483L|PMS2_uc011jwl.1_Silent_p.L483L|PMS2_uc010ktg.2_Silent_p.L307L|PMS2_uc010kte.2_Intron|PMS2_uc010ktf.1_Intron	NM_000535	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 isoform	618					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)		GAAAAGTCCAGGGGCACAACT	0.383			Mis|N|F			colorectal|endometrial|ovarian|medulloblastoma|glioma		Direct_reversal_of_damage|MMR	Lynch_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome				25	82					0	0	0.002780	0	0
RAC1	5879	broad.mit.edu	37	7	6426892	6426892	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:6426892C>T	uc003spx.2	+	2	326	c.85C>T	c.(85-87)CCT>TCT	p.P29S	RAC1_uc003spw.2_Missense_Mutation_p.P29S	NM_006908	NP_008839	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1	29					actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding			lung(2)	2		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	CAATGCATTTCCTGGAGAATA	0.353													67	73					0	0	0.003610	0	0
DAGLB	221955	broad.mit.edu	37	7	6465685	6465685	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:6465685G>A	uc003sqa.2	-	7	1160	c.990C>T	c.(988-990)TTC>TTT	p.F330F	DAGLB_uc011jwt.1_Silent_p.F144F|DAGLB_uc011jwu.1_Silent_p.F201F|DAGLB_uc003sqb.2_Silent_p.F49F|DAGLB_uc003sqc.2_Silent_p.F49F|DAGLB_uc011jwv.1_RNA|DAGLB_uc003sqd.3_Silent_p.F289F|DAGLB_uc011jww.1_RNA	NM_139179	NP_631918	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta isoform 1	330	Cytoplasmic (Potential).				lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			ovary(2)|central_nervous_system(1)	3		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		GGATGGAGCCGAAGTGACAGT	0.488													27	91					0	0	0.001786	0	0
PHF14	9678	broad.mit.edu	37	7	11076227	11076227	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:11076227G>A	uc003sry.1	+	9	2220	c.1785G>A	c.(1783-1785)GTG>GTA	p.V595V	PHF14_uc011jxi.1_Silent_p.V310V|PHF14_uc003srz.2_Silent_p.V595V|PHF14_uc011jxj.1_Silent_p.V310V	NM_014660	NP_055475	O94880	PHF14_HUMAN	PHD finger protein 14 isoform 2	595							zinc ion binding			kidney(2)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		TCTTTCCAGTGGACAATTCAG	0.418													14	64					0	0	0.004007	0	0
BZW2	28969	broad.mit.edu	37	7	16737780	16737780	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:16737780C>T	uc003stl.2	+	10	1255	c.1077C>T	c.(1075-1077)GCC>GCT	p.A359A	BZW2_uc011jxx.1_Silent_p.A165A|BZW2_uc003stm.2_Silent_p.A165A|BZW2_uc003stj.2_Silent_p.A359A|BZW2_uc003stk.2_Silent_p.A283A|BZW2_uc003stp.2_Silent_p.A207A|BZW2_uc010kua.2_Silent_p.A359A	NM_001159767	NP_001153239	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2	359	W2.				cell differentiation|nervous system development|RNA metabolic process		protein binding			ovary(2)	2	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		TCATGAAAGCCTTTCAGAAGA	0.498													59	85					0	0	0.003610	0	0
DNAH11	8701	broad.mit.edu	37	7	21675610	21675610	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:21675610G>A	uc003svc.2	+	26	4668	c.4637G>A	c.(4636-4638)CGA>CAA	p.R1546Q		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1546	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						GAAGTCCAGCGAACTTGGTCT	0.388									Kartagener_syndrome				20	24					0	0	0.008871	0	0
DNAH11	8701	broad.mit.edu	37	7	21856200	21856200	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:21856200C>T	uc003svc.2	+	65	10500	c.10469C>T	c.(10468-10470)GCC>GTC	p.A3490V		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3490	AAA 5 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						ACCGAAAATGCCGCTATCCTA	0.493									Kartagener_syndrome				7	36					0	0	0.001984	0	0
DNAH11	8701	broad.mit.edu	37	7	21892109	21892109	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:21892109G>A	uc003svc.2	+	68	10973	c.10942G>A	c.(10942-10944)GAT>AAT	p.D3648N		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3648	AAA 5 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						GCACCAAAATGATTTTAAAAT	0.338									Kartagener_syndrome				13	60					0	0	0.003163	0	0
STK31	56164	broad.mit.edu	37	7	23810624	23810624	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:23810624G>A	uc003sws.3	+	14	1781	c.1714G>A	c.(1714-1716)GAT>AAT	p.D572N	STK31_uc003swt.3_Missense_Mutation_p.D549N|STK31_uc011jze.1_Missense_Mutation_p.D572N|STK31_uc010kuq.2_Missense_Mutation_p.D549N	NM_031414	NP_113602	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31 isoform a	572							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			skin(3)|lung(2)|ovary(2)|stomach(2)	9						TTTCATTTAGGATCAAGGTGA	0.338													51	54					0	0	0.003610	0	0
NPY	4852	broad.mit.edu	37	7	24329170	24329170	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:24329170G>A	uc003sww.1	+	3	327	c.241G>A	c.(241-243)GAA>AAA	p.E81K		NM_000905	NP_000896	P01303	NPY_HUMAN	neuropeptide Y precursor	81					adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity				0						CTTGATGAGAGAAAGCACAGA	0.443													16	69					0	0	0.006122	0	0
HNRNPA2B1	3181	broad.mit.edu	37	7	26232960	26232960	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:26232960C>T	uc003sxr.3	-	10	1127	c.911G>A	c.(910-912)GGA>GAA	p.G304E	HNRNPA2B1_uc003sxs.3_Missense_Mutation_p.G292E	NM_031243	NP_112533	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	304	Gly-rich.				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|protein binding|RNA binding|single-stranded telomeric DNA binding			ovary(1)|central_nervous_system(1)|skin(1)	3						GTTATAATTTCCAAAATCATT	0.368			T	ETV1	prostate								15	46					0	0	0.002450	0	0
SKAP2	8935	broad.mit.edu	37	7	26766572	26766572	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:26766572T>A	uc003syc.2	-	7	816	c.523A>T	c.(523-525)AAC>TAC	p.N175Y	SKAP2_uc011jzi.1_Missense_Mutation_p.N3Y|SKAP2_uc011jzj.1_Missense_Mutation_p.N160Y	NM_003930	NP_003921	O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2	175	PH.				B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity			pancreas(1)	1						CTTAGAGTGTTATTCATTCTG	0.318													24	66					0	0	0.003330	0	0
NOD1	10392	broad.mit.edu	37	7	30491125	30491125	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:30491125G>A	uc003tav.2	-	6	2431	c.1908C>T	c.(1906-1908)CCC>CCT	p.P636P		NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain	636	LRR 1.				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|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	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			ovary(1)|skin(1)	2						CCTGAACGCGGGGCAGGCTCT	0.637													6	15					0	0	0.001168	0	0
NPSR1	387129	broad.mit.edu	37	7	34724193	34724193	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:34724193C>T	uc003teg.1	+	2	305	c.177C>T	c.(175-177)CTC>CTT	p.L59L	AAA1_uc010kwo.1_Intron|AAA1_uc010kwp.1_Intron|AAA1_uc003tdz.2_Intron|AAA1_uc010kwq.1_Intron|AAA1_uc003teb.1_Intron|AAA1_uc011kaq.1_Intron|NPSR1_uc003teh.1_Silent_p.L59L|NPSR1_uc010kwt.1_5'UTR|NPSR1_uc010kwu.1_5'UTR|NPSR1_uc010kwv.1_Silent_p.L59L|NPSR1_uc003tei.1_Silent_p.L59L|NPSR1_uc010kww.1_Silent_p.L59L|NPSR1_uc011kar.1_Silent_p.L59L	NM_207172	NP_997055	Q6W5P4	NPSR1_HUMAN	G protein-coupled receptor for asthma	59	Helical; Name=1; (Potential).					cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			skin(3)|pancreas(1)	4					Halothane(DB01159)	TGTGGGTCCTCTTTGTTTTTA	0.428													23	83					0	0	0.004656	0	0
ELMO1	9844	broad.mit.edu	37	7	37382279	37382279	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:37382279C>T	uc003tfk.1	-	2	323	c.16G>A	c.(16-18)GAC>AAC	p.D6N	ELMO1_uc010kxg.1_Missense_Mutation_p.D6N	NM_014800	NP_055615	Q92556	ELMO1_HUMAN	engulfment and cell motility 1 isoform 1	6					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6						TTGACGATGTCCGCGGGTGGC	0.498													43	94					0	0	0.002222	0	0
GPR141	353345	broad.mit.edu	37	7	37780794	37780794	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:37780794G>A	uc003tfm.1	+	1	799	c.799G>A	c.(799-801)GAA>AAA	p.E267K	uc003tfl.2_Intron	NM_181791	NP_861456	Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	267	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3						ATTTTATAACGAAATCTTCTT	0.383													20	64					0	0	0.008871	0	0
INHBA	3624	broad.mit.edu	37	7	41729932	41729932	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:41729932C>T	uc003thq.2	-	2	832	c.597G>A	c.(595-597)GGG>GGA	p.G199G	INHBA_uc003thr.2_Silent_p.G199G	NM_002192	NP_002183	P08476	INHBA_HUMAN	inhibin beta A precursor	199					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|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|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			lung(5)|ovary(1)	6						CACTCCTCTCCCCCTTTAAGC	0.587										TSP Lung(11;0.080)			9	21					0	0	0.006214	0	0
GLI3	2737	broad.mit.edu	37	7	42004228	42004228	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:42004228G>A	uc011kbh.1	-	15	4534	c.4443C>T	c.(4441-4443)TCC>TCT	p.S1481S	GLI3_uc011kbg.1_Silent_p.S1422S	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	1481					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						TAGCACCTGGGGAAAGTAACT	0.532									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				6	30					0	0	0.001984	0	0
NPC1L1	29881	broad.mit.edu	37	7	44579357	44579357	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:44579357C>T	uc003tlb.2	-	2	695	c.639G>A	c.(637-639)CTG>CTA	p.L213L	NPC1L1_uc003tlc.2_Silent_p.L213L|NPC1L1_uc011kbw.1_Silent_p.L213L|NPC1L1_uc003tld.2_Silent_p.L213L	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Niemann-Pick C1-like protein 1 isoform 1	213	Extracellular (Potential).				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5					Ezetimibe(DB00973)	CCAGTGGGGCCAGACCATTGC	0.617													17	44					0	0	0.006122	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44795885	44795885	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:44795885C>T	uc003tlr.2	+	2	160	c.37C>T	c.(37-39)CCT>TCT	p.P13S	ZMIZ2_uc003tlq.2_Missense_Mutation_p.P13S|ZMIZ2_uc003tls.2_Missense_Mutation_p.P13S	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2 isoform 1	13					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			ovary(2)|large_intestine(2)|breast(1)	5						TGCCCTGCCCCCTGCGCCACA	0.597													9	32					0	0	0.002450	0	0
MYO1G	64005	broad.mit.edu	37	7	45006321	45006321	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:45006321G>A	uc003tmh.2	-	15	2043	c.1899C>T	c.(1897-1899)GTC>GTT	p.V633V	MYO1G_uc003tmf.2_Silent_p.V76V|MYO1G_uc003tmg.2_Silent_p.V395V|MYO1G_uc010kym.2_Silent_p.V518V|MYO1G_uc003tmi.1_Silent_p.V545V	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN	myosin IG	633	Myosin head-like.					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|ovary(1)|pancreas(1)	4						CAGCCCTGCGGACCCTCACAT	0.602													28	52					0	0	0.005443	0	0
SUN3	256979	broad.mit.edu	37	7	48056919	48056919	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:48056919C>T	uc003tof.2	-	4	325	c.228G>A	c.(226-228)CAG>CAA	p.Q76Q	SUN3_uc003tog.2_Silent_p.Q76Q|SUN3_uc011kcf.1_Silent_p.Q64Q	NM_152782	NP_689995	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 1	76						integral to membrane				central_nervous_system(1)	1						GTCTGGATTTCTGAGGAACAT	0.289													9	27					0	0	0.006214	0	0
ZPBP	11055	broad.mit.edu	37	7	50121403	50121403	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:50121403G>A	uc003tou.2	-	3	371	c.301C>T	c.(301-303)CAA>TAA	p.Q101*	ZPBP_uc011kci.1_Nonsense_Mutation_p.Q27*|ZPBP_uc010kyw.2_Nonsense_Mutation_p.Q101*	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein isoform 1	101					binding of sperm to zona pellucida	extracellular region					0	Glioma(55;0.08)|all_neural(89;0.245)					CCATACCATTGGAATGATGGG	0.358													16	43					0	0	0.003163	0	0
IKZF1	10320	broad.mit.edu	37	7	50467663	50467663	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:50467663G>A	uc003tow.3	+	9	1066	c.898G>A	c.(898-900)GAG>AAG	p.E300K	IKZF1_uc003tox.3_Missense_Mutation_p.E258K|IKZF1_uc003toy.3_Missense_Mutation_p.E258K|IKZF1_uc011kck.1_Missense_Mutation_p.E213K|IKZF1_uc003toz.3_Missense_Mutation_p.E270K|IKZF1_uc010kyx.2_Missense_Mutation_p.E40K|IKZF1_uc003tpa.3_Missense_Mutation_p.E42K	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	zinc finger protein, subfamily 1A, 1 (Ikaros)	300					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding			haematopoietic_and_lymphoid_tissue(147)|lung(1)	148	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				CGCCAGCTACGAGAAGGAGAA	0.632			D		ALL								5	10					0	0	0.001984	0	0
DDC	1644	broad.mit.edu	37	7	50537803	50537803	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:50537803C>T	uc003tpf.3	-	12	1194	c.1108G>A	c.(1108-1110)GGA>AGA	p.G370R	DDC_uc010kza.2_Missense_Mutation_p.G285R|DDC_uc003tpg.3_Missense_Mutation_p.G370R	NM_000790	NP_000781	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid	370					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			ovary(2)	2	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	CCTTTGACTCCATACATCCTA	0.393													14	57					0	0	0.003163	0	0
COBL	23242	broad.mit.edu	37	7	51096438	51096438	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:51096438C>T	uc003tpr.3	-	10	2540	c.2355G>A	c.(2353-2355)GAG>GAA	p.E785E	COBL_uc003tps.2_Silent_p.E842E|COBL_uc011kcl.1_Silent_p.E785E|COBL_uc003tpp.3_Silent_p.E571E|COBL_uc003tpq.3_Silent_p.E726E|COBL_uc003tpo.3_Silent_p.E327E	NM_015198	NP_056013	O75128	COBL_HUMAN	cordon-bleu homolog	785										skin(3)|ovary(2)	5	Glioma(55;0.08)					TGGCAGAGCTCTCTGAGGGTC	0.587													7	26					0	0	0.001984	0	0
COBL	23242	broad.mit.edu	37	7	51096964	51096964	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:51096964C>T	uc003tpr.3	-	10	2014	c.1829G>A	c.(1828-1830)GGA>GAA	p.G610E	COBL_uc003tps.2_Missense_Mutation_p.G667E|COBL_uc011kcl.1_Missense_Mutation_p.G610E|COBL_uc003tpp.3_Missense_Mutation_p.G396E|COBL_uc003tpq.3_Missense_Mutation_p.G551E|COBL_uc003tpo.3_Missense_Mutation_p.G152E	NM_015198	NP_056013	O75128	COBL_HUMAN	cordon-bleu homolog	610										skin(3)|ovary(2)	5	Glioma(55;0.08)					CACACGGATTCCTTTTCCGAC	0.532													14	27					0	0	0.002450	0	0
GBAS	2631	broad.mit.edu	37	7	56051492	56051492	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:56051492C>T	uc003tre.1	+	6	524	c.516C>T	c.(514-516)TTC>TTT	p.F172F	GBAS_uc003trf.1_Silent_p.F133F	NM_001483	NP_001474	O75323	NIPS2_HUMAN	nipsnap homolog 2	172						integral to plasma membrane|membrane fraction|mitochondrion	protein binding			central_nervous_system(1)	1	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGTTGGAGTTCAGTTTCTGGA	0.388													44	57					0	0	0.002522	0	0
Unknown	0	broad.mit.edu	37	7	64526718	64526718	+	RNA	SNP	G	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:64526718G>C	uc003ttt.1	+	3		c.435G>C			uc010kzt.1_RNA					Homo sapiens cDNA clone IMAGE:4215179, partial cds.																		AGTAAGCAGAGAGATGGACAA	0.398													11	9					0	0	0.001368	0	0
WBSCR17	64409	broad.mit.edu	37	7	70880941	70880941	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:70880941G>A	uc003tvy.2	+	4	656	c.656G>A	c.(655-657)AGA>AAA	p.R219K	WBSCR17_uc003tvz.2_5'UTR	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	UDP-GalNAc:polypeptide	219	Catalytic subdomain A.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				AAGGTGGTAAGAAATCAGAAG	0.537													17	16					0	0	0.004007	0	0
CALN1	83698	broad.mit.edu	37	7	71488683	71488683	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:71488683C>T	uc003twa.3	-	4	861	c.334G>A	c.(334-336)GAT>AAT	p.D112N	CALN1_uc003twb.3_Missense_Mutation_p.D154N|CALN1_uc003twc.3_Missense_Mutation_p.D112N	NM_001017440	NP_001017440	Q9BXU9	CABP8_HUMAN	calneuron 1 isoform 2	112	Cytoplasmic (Potential).					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			skin(1)	1		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				AGAAAACCATCGCGACCTTCT	0.418													22	77					0	0	0.006320	0	0
SBDSP1	155370	broad.mit.edu	37	7	72307289	72307289	+	RNA	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:72307289A>T	uc003twg.2	+	5		c.1029A>T			SBDSP1_uc003twh.2_RNA|SBDSP1_uc003twe.2_RNA	NR_024110				Homo sapiens Shwachman-Bodian-Diamond syndrome pseudogene, mRNA (cDNA clone IMAGE:4329436).												0						AATGACACCCATCAGTCTCTT	0.363													10	33					0	0	0.008291	0	0
WBSCR16	81554	broad.mit.edu	37	7	74486466	74486466	+	Missense_Mutation	SNP	G	A	A	rs143969297		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:74486466G>A	uc003ubr.2	-	2	568	c.442C>T	c.(442-444)CGG>TGG	p.R148W	WBSCR16_uc010lcb.1_Missense_Mutation_p.R148W	NM_030798	NP_110425	Q96I51	WBS16_HUMAN	Williams-Beuren syndrome chromosome region 16	148	RCC1 1.										0						TTATCTTTCCGGCTCCTGTGA	0.403													16	41					0	0	0.004990	0	0
HIP1	3092	broad.mit.edu	37	7	75178288	75178288	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:75178288G>A	uc003uds.1	-	23	2348	c.2307C>T	c.(2305-2307)CCC>CCT	p.P769P	HIP1_uc011kfz.1_Silent_p.P646P	NM_005338	NP_005329	O00291	HIP1_HUMAN	huntingtin interacting protein 1	769					activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1)	8						CCAGTCCCCTGGGCAGGAGCT	0.567			T	PDGFRB	CMML								25	81					0	0	0.003954	0	0
CCL24	6369	broad.mit.edu	37	7	75441142	75441142	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:75441142C>T	uc011kga.1	-	3	332	c.332G>A	c.(331-333)AGA>AAA	p.R111K		NM_002991	NP_002982	O00175	CCL24_HUMAN	small inducible cytokine A24 precursor	111					cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|signal transduction	extracellular space	chemokine activity				0						GCCAGGATATCTCTGGACAGG	0.622													8	31					0	0	0.003080	0	0
YWHAG	7532	broad.mit.edu	37	7	75959206	75959206	+	Silent	SNP	C	A	A	rs140411299		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:75959206C>A	uc011kgj.1	-	2	649	c.432G>T	c.(430-432)GCG>GCT	p.A144A		NM_012479	NP_036611	P61981	1433G_HUMAN	tyrosine 3-monooxygenase/tryptophan	144				AT -> GD (in Ref. 1; AAD48408).	G2/M transition of mitotic cell cycle|regulation of neuron differentiation|regulation of signal transduction|regulation of synaptic plasticity	cytosol	insulin-like growth factor receptor binding|protein kinase C binding|protein kinase C inhibitor activity			ovary(1)|lung(1)	2						CCACCACCGTCGCCCTTTTCT	0.572													38	73					5.71845e-15	7.47993e-15	0.005524	1	0
PCLO	27445	broad.mit.edu	37	7	82579670	82579670	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:82579670T>C	uc003uhx.2	-	6	10523	c.10234A>G	c.(10234-10236)AAG>GAG	p.K3412E	PCLO_uc003uhv.2_Missense_Mutation_p.K3412E|PCLO_uc010lec.2_Missense_Mutation_p.K377E	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	3343					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						GAACTTCTCTTTTTGGGTTGT	0.418													28	80					0	0	0.007291	0	0
PCLO	27445	broad.mit.edu	37	7	82584769	82584769	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:82584769C>T	uc003uhx.2	-	5	5789	c.5500G>A	c.(5500-5502)GAA>AAA	p.E1834K	PCLO_uc003uhv.2_Missense_Mutation_p.E1834K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	1765					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						GATGCATCTTCAATGGGAGAG	0.428													67	161					0	0	0.003610	0	0
PCLO	27445	broad.mit.edu	37	7	82595441	82595441	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:82595441G>A	uc003uhx.2	-	4	3952	c.3663C>T	c.(3661-3663)ATC>ATT	p.I1221I	PCLO_uc003uhv.2_Silent_p.I1221I	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	1160					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						CTTCTTCAGGGATTAGTTTTT	0.378													54	156					0	0	0.003610	0	0
PCLO	27445	broad.mit.edu	37	7	82785054	82785054	+	Silent	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:82785054T>C	uc003uhx.2	-	2	1192	c.903A>G	c.(901-903)CCA>CCG	p.P301P	PCLO_uc003uhv.2_Silent_p.P301P	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						GTGGTTTGGATGGGCTTGGCA	0.517													9	37					0	0	0.000978	0	0
SEMA3D	223117	broad.mit.edu	37	7	84727254	84727254	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:84727254G>A	uc003uic.2	-	2	219	c.179C>T	c.(178-180)CCC>CTC	p.P60L	SEMA3D_uc010led.2_Missense_Mutation_p.P60L|SEMA3D_uc010lee.1_Missense_Mutation_p.P60L	NM_152754	NP_689967	O95025	SEM3D_HUMAN	semaphorin 3D precursor	60	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			ovary(3)|large_intestine(2)	5						ACCCAAAAAGGGAATACAGCT	0.289													36	117					0	0	0.004878	0	0
GRM3	2913	broad.mit.edu	37	7	86468243	86468243	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:86468243C>T	uc003uid.2	+	4	2512	c.1413C>T	c.(1411-1413)TTC>TTT	p.F471F	GRM3_uc010lef.2_Intron|GRM3_uc010leg.2_Silent_p.F343F|GRM3_uc010leh.2_Silent_p.F63F	NM_000840	NP_000831	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3 precursor	471	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TGTTCAATTTCCAAAATGTAG	0.428													14	16					0	0	0.002450	0	0
GRM3	2913	broad.mit.edu	37	7	86468433	86468433	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:86468433G>A	uc003uid.2	+	4	2702	c.1603G>A	c.(1603-1605)GAA>AAA	p.E535K	GRM3_uc010lef.2_Intron|GRM3_uc010leg.2_Missense_Mutation_p.E407K|GRM3_uc010leh.2_Missense_Mutation_p.E127K	NM_000840	NP_000831	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3 precursor	535	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CATCCCCTGTGAACCCTACGA	0.532													31	59					0	0	0.002445	0	0
GRM3	2913	broad.mit.edu	37	7	86479837	86479837	+	Missense_Mutation	SNP	G	A	A	rs144976488		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:86479837G>A	uc003uid.2	+	5	3642	c.2543G>A	c.(2542-2544)GGA>GAA	p.G848E	GRM3_uc010lef.2_Nonsense_Mutation_p.W490*|GRM3_uc010leg.2_Missense_Mutation_p.G720E|GRM3_uc010leh.2_Missense_Mutation_p.G440E	NM_000840	NP_000831	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3 precursor	848	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane		p.G848E(1)		lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	AGTGTCAGTGGAACTGGGACC	0.478													24	54					0	0	0.007291	0	0
STEAP4	79689	broad.mit.edu	37	7	87912034	87912034	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:87912034G>A	uc003ujs.2	-	3	1011	c.906C>T	c.(904-906)TTC>TTT	p.F302F	STEAP4_uc010lek.2_Intron|STEAP4_uc003ujt.2_Silent_p.F302F	NM_024636	NP_078912	Q687X5	STEA4_HUMAN	tumor necrosis factor, alpha-induced protein 9	302	Ferric oxidoreductase.|Helical; (Potential).				fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity				0	Esophageal squamous(14;0.00802)					GGACATGAAGGAAGGCAAATC	0.443													9	34					0	0	0.006214	0	0
CDK14	5218	broad.mit.edu	37	7	90585031	90585031	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:90585031C>T	uc003uky.2	+	9	1068	c.846C>T	c.(844-846)TCC>TCT	p.S282S	CDK14_uc003ukz.1_Silent_p.S264S|CDK14_uc010les.1_Silent_p.S236S|CDK14_uc011khl.1_Silent_p.S153S	NM_012395	NP_036527	O94921	CDK14_HUMAN	PFTAIRE protein kinase 1	282	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			lung(3)|ovary(1)	4						GAGCAAAATCCGTCCCTAGCC	0.413													32	60					0	0	0.003271	0	0
CDK14	5218	broad.mit.edu	37	7	90675251	90675251	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:90675251C>T	uc003uky.2	+	11	1303	c.1081C>T	c.(1081-1083)CAT>TAT	p.H361Y	CDK14_uc003ukz.1_Missense_Mutation_p.H343Y|CDK14_uc010les.1_Missense_Mutation_p.H315Y|CDK14_uc011khl.1_Missense_Mutation_p.H232Y	NM_012395	NP_036527	O94921	CDK14_HUMAN	PFTAIRE protein kinase 1	361	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			lung(3)|ovary(1)	4						GCCTGGAGTTCATTCTTTACC	0.393													9	37					0	0	0.008291	0	0
SAMD9L	219285	broad.mit.edu	37	7	92762860	92762860	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:92762860C>T	uc003umh.1	-	5	3641	c.2425G>A	c.(2425-2427)GAA>AAA	p.E809K	SAMD9L_uc003umj.1_Missense_Mutation_p.E809K|SAMD9L_uc003umi.1_Missense_Mutation_p.E809K|SAMD9L_uc010lfb.1_Missense_Mutation_p.E809K|SAMD9L_uc003umk.1_Missense_Mutation_p.E809K|SAMD9L_uc010lfc.1_Missense_Mutation_p.E809K|SAMD9L_uc010lfd.1_Missense_Mutation_p.E809K|SAMD9L_uc011khx.1_Intron	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	809										ovary(4)	4	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TAGACATTTTCTTGTTCTTCA	0.373													18	59					0	0	0.004990	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92838107	92838107	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:92838107G>A	uc003umm.2	-	4	821	c.798C>T	c.(796-798)ATC>ATT	p.I266I	HEPACAM2_uc003uml.2_Silent_p.I254I|HEPACAM2_uc010lff.2_Silent_p.I254I|HEPACAM2_uc011khy.1_Silent_p.I289I	NM_001039372	NP_001034461	A8MVW5	HECA2_HUMAN	HEPACAM family member 2 isoform 1	266	Ig-like C2-type 2.|Extracellular (Potential).					integral to membrane				ovary(3)|breast(1)|kidney(1)	5						AATCAAATAGGATGGCCTCTC	0.418													12	57					0	0	0.001855	0	0
COL1A2	1278	broad.mit.edu	37	7	94038684	94038684	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:94038684C>T	uc003ung.1	+	17	1314	c.843C>T	c.(841-843)CCC>CCT	p.P281P	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	281					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)	CCGCCGGTCCCCGTGGTGAAG	0.483										HNSCC(75;0.22)			21	83					0	0	0.001786	0	0
CASD1	64921	broad.mit.edu	37	7	94185045	94185045	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:94185045C>T	uc003uni.3	+	18	2596	c.2369C>T	c.(2368-2370)TCC>TTC	p.S790F	CASD1_uc003unj.3_Missense_Mutation_p.S790F	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1 precursor	790	Helical; (Potential).					integral to membrane				ovary(2)	2	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			ATCTTATCATCCATTCAAGAT	0.338													14	55					0	0	0.004990	0	0
ASB4	51666	broad.mit.edu	37	7	95157127	95157127	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:95157127G>A	uc011kij.1	+	3	490	c.490G>A	c.(490-492)GCG>ACG	p.A164T	ASB4_uc003unx.2_Missense_Mutation_p.A164T	NM_016116	NP_057200	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box-containing protein 4	164	ANK 3.				intracellular signal transduction					central_nervous_system(1)	1	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			CTTTATAGGGGCGAATGTGAA	0.438											OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	24					0	0	0.003080	0	0
SLC25A13	10165	broad.mit.edu	37	7	95838187	95838187	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:95838187C>T	uc003uof.3	-	5	622	c.431G>A	c.(430-432)AGA>AAA	p.R144K	SLC25A13_uc003uog.3_Missense_Mutation_p.R144K|SLC25A13_uc011kik.1_Missense_Mutation_p.R36K	NM_014251	NP_055066	Q9UJS0	CMC2_HUMAN	solute carrier family 25, member 13 isoform 2	144	EF-hand 3.				ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			central_nervous_system(3)|skin(1)	4	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	TGTCAGGTGTCTTTTTCTTTC	0.289													29	68					0	0	0.007291	0	0
NPTX2	4885	broad.mit.edu	37	7	98256592	98256593	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:98256592_98256593GG>AA	uc003upl.2	+	4	1181_1182	c.1004_1005GG>AA	c.(1003-1005)GGG>GAA	p.G335E		NM_002523	NP_002514	P47972	NPTX2_HUMAN	neuronal pentraxin II precursor	335	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			central_nervous_system(2)|skin(1)	3	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			CTGGGCACTGGGGAGAACCTGG	0.644													20	24					0	0	0.004672	0	0
TRRAP	8295	broad.mit.edu	37	7	98509802	98509802	+	Missense_Mutation	SNP	C	T	T	rs147405090		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:98509802C>T	uc003upp.2	+	18	2374	c.2165C>T	c.(2164-2166)TCC>TTC	p.S722F	TRRAP_uc011kis.1_Missense_Mutation_p.S722F|TRRAP_uc003upr.2_Missense_Mutation_p.S414F	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	722					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	p.S722F(10)		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)			GGCTCTGTCTCCCTCTTTGCA	0.413													26	74					0	0	0.006320	0	0
CYP3A4	1576	broad.mit.edu	37	7	99381677	99381677	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:99381677C>T	uc003urv.1	-	1	132	c.28G>A	c.(28-30)GAA>AAA	p.E10K	CYP3A4_uc003urw.1_Missense_Mutation_p.E10K|CYP3A4_uc011kiz.1_Missense_Mutation_p.E10K|CYP3A4_uc011kja.1_Missense_Mutation_p.E10K|CYP3A4_uc011kjb.1_Missense_Mutation_p.E10K	NM_017460	NP_059488	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A,	10	Helical; (Potential).				alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			central_nervous_system(3)|ovary(1)	4	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	AGCCAGGTTTCCATGGCCAAG	0.507													31	44					0	0	0.004878	0	0
CYP3A43	64816	broad.mit.edu	37	7	99447243	99447243	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:99447243C>T	uc003urx.1	+	7	699	c.596C>T	c.(595-597)CCA>CTA	p.P199L	CYP3A43_uc003ury.1_Missense_Mutation_p.P199L|CYP3A43_uc003urz.1_Missense_Mutation_p.P199L|CYP3A43_uc003usa.1_RNA|CYP3A43_uc010lgi.1_Intron|CYP3A43_uc003usb.1_Silent_p.S61S	NM_057095	NP_476436	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A,	199			Missing (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			ovary(1)|skin(1)	2	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	CTCAACAATCCACAAGATCCC	0.328													17	63					0	0	0.007413	0	0
TAF6	6878	broad.mit.edu	37	7	99711359	99711359	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:99711359G>A	uc003uti.2	-	4	358	c.277C>T	c.(277-279)CCT>TCT	p.P93S	TAF6_uc003utg.2_Missense_Mutation_p.P34S|TAF6_uc003uth.2_Missense_Mutation_p.P150S|TAF6_uc003utk.2_Missense_Mutation_p.P93S|TAF6_uc011kji.1_Missense_Mutation_p.P130S|TAF6_uc003utj.2_Missense_Mutation_p.P83S|TAF6_uc003utl.2_Missense_Mutation_p.P93S|TAF6_uc003utm.2_Missense_Mutation_p.P93S|TAF6_uc003utn.1_RNA	NM_139315	NP_647476	P49848	TAF6_HUMAN	TBP-associated factor 6 isoform alpha	93					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AAGCGGAAAGGAATGAACTCC	0.597													10	19					0	0	0.006214	0	0
C7orf43	55262	broad.mit.edu	37	7	99755306	99755306	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:99755306C>T	uc003utr.2	-	3	767	c.587G>A	c.(586-588)CGA>CAA	p.R196Q	C7orf43_uc010lgo.2_5'Flank|C7orf43_uc010lgp.2_5'Flank|C7orf43_uc011kjj.1_5'UTR|C7orf43_uc003uts.2_5'UTR	NM_018275	NP_060745	Q8WVR3	CG043_HUMAN	hypothetical protein LOC55262	196											0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCCAGGAGATCGGGTCTGCAG	0.577											OREG0018198	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	93					0	0	0.006320	0	0
MEPCE	56257	broad.mit.edu	37	7	100029239	100029239	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:100029239C>T	uc003uuw.2	+	1	1711	c.1598C>T	c.(1597-1599)CCC>CTC	p.P533L	ZCWPW1_uc003uut.2_5'Flank|ZCWPW1_uc011kjr.1_5'Flank|ZCWPW1_uc011kjt.1_5'Flank|ZCWPW1_uc011kju.1_5'Flank|MEPCE_uc003uuv.2_Missense_Mutation_p.P64L	NM_019606	NP_062552	Q7L2J0	MEPCE_HUMAN	bin3, bicoid-interacting 3	533	Bin3-type SAM.						methyltransferase activity			upper_aerodigestive_tract(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGCCGGGGTCCCATCGCTGCC	0.612													8	18					0	0	0.003080	0	0
FBXO24	26261	broad.mit.edu	37	7	100190506	100190506	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:100190506C>T	uc003uvm.1	+	5	952	c.659C>T	c.(658-660)GCC>GTC	p.A220V	FBXO24_uc010lha.1_RNA|FBXO24_uc003uvl.1_Missense_Mutation_p.A206V|FBXO24_uc003uvn.1_Intron|uc011kjy.1_RNA|FBXO24_uc011kjz.1_Missense_Mutation_p.A258V|FBXO24_uc011kka.1_Missense_Mutation_p.A208V	NM_033506	NP_277041	O75426	FBX24_HUMAN	F-box only protein 24 isoform 1	220						ubiquitin ligase complex	ubiquitin-protein ligase activity			ovary(3)|skin(1)	4	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					AGCAGCCGGGCCTGTGACTGT	0.552													14	27					0	0	0.004990	0	0
FBXO24	26261	broad.mit.edu	37	7	100198468	100198468	+	Silent	SNP	G	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:100198468G>C	uc003uvm.1	+	10	1982	c.1689G>C	c.(1687-1689)CTG>CTC	p.L563L	FBXO24_uc003uvn.1_Silent_p.L201L|uc011kjy.1_RNA|FBXO24_uc011kjz.1_Silent_p.L601L|FBXO24_uc011kka.1_Silent_p.L551L|PCOLCE_uc011kkb.1_5'Flank|PCOLCE_uc003uvo.2_5'Flank|PCOLCE_uc010lhb.1_5'Flank	NM_033506	NP_277041	O75426	FBX24_HUMAN	F-box only protein 24 isoform 1	563						ubiquitin ligase complex	ubiquitin-protein ligase activity			ovary(3)|skin(1)	4	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TGGACATGCTGCAGAGGGCTG	0.632													12	55					0	0	0.001855	0	0
TFR2	7036	broad.mit.edu	37	7	100226950	100226950	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:100226950C>T	uc003uvv.1	-	10	1357	c.1316G>A	c.(1315-1317)GGA>GAA	p.G439E	TFR2_uc010lhc.1_5'UTR|TFR2_uc003uvu.1_Missense_Mutation_p.G268E	NM_003227	NP_003218	Q9UP52	TFR2_HUMAN	transferrin receptor 2	439	Extracellular (Potential).				cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			ovary(1)|pancreas(1)	2	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TTTAGCTGCTCCTGGGCCCCA	0.632													13	25					0	0	0.001368	0	0
MUC17	140453	broad.mit.edu	37	7	100680287	100680287	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:100680287G>A	uc003uxp.1	+	3	5643	c.5590G>A	c.(5590-5592)GAA>AAA	p.E1864K	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	1864	Extracellular (Potential).|Ser-rich.|29.|59 X approximate tandem repeats.					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)					AACGCCTAGTGAAGGAAGCAC	0.498													57	116					0	0	0.003610	0	0
MUC17	140453	broad.mit.edu	37	7	100686970	100686970	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:100686970C>T	uc003uxp.1	+	3	12326	c.12273C>T	c.(12271-12273)ACC>ACT	p.T4091T	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	4091	Extracellular (Potential).					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)					CTGTCACCACCATGACCACCA	0.562													21	43					0	0	0.001523	0	0
SLC26A5	375611	broad.mit.edu	37	7	103033461	103033461	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:103033461C>T	uc003vbz.2	-	10	1260	c.1024G>A	c.(1024-1026)GAT>AAT	p.D342N	SLC26A5_uc003vbt.1_Missense_Mutation_p.D342N|SLC26A5_uc003vbu.1_Missense_Mutation_p.D342N|SLC26A5_uc003vbv.1_Intron|SLC26A5_uc003vbw.2_Intron|SLC26A5_uc003vbx.2_Missense_Mutation_p.D342N|SLC26A5_uc003vby.2_RNA|SLC26A5_uc010liy.2_RNA	NM_198999	NP_945350	P58743	S26A5_HUMAN	prestin isoform a	342	Helical; Name=8; (Potential).				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			ovary(1)	1						GCAATGGCATCTACGTACACA	0.483													19	37					0	0	0.006122	0	0
RELN	5649	broad.mit.edu	37	7	103124178	103124178	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:103124178C>T	uc003vca.2	-	62	10263	c.10103G>A	c.(10102-10104)GGG>GAG	p.G3368E	RELN_uc010liz.2_Missense_Mutation_p.G3368E	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	3368	BNR 16.				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)		CCAGGTGATCCCGTTGTTGAC	0.557													33	93					0	0	0.003271	0	0
PIK3CG	5294	broad.mit.edu	37	7	106515219	106515219	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:106515219G>A	uc003vdv.3	+	5	2447	c.2362G>A	c.(2362-2364)GAT>AAT	p.D788N	PIK3CG_uc003vdu.2_Missense_Mutation_p.D788N|PIK3CG_uc003vdw.2_Missense_Mutation_p.D788N	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	788					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						AGTTCCATATGATCCTGGACT	0.433													14	32					0	0	0.004007	0	0
COG5	10466	broad.mit.edu	37	7	107053059	107053059	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:107053059A>G	uc003ved.2	-	7	1175	c.650T>C	c.(649-651)ATA>ACA	p.I217T	COG5_uc003vec.2_Missense_Mutation_p.I217T|COG5_uc003vee.2_Missense_Mutation_p.I217T	NM_181733	NP_859422	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5 isoform	217					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			central_nervous_system(2)|skin(2)	4						AGAAAGATCTATTCCTTGAGA	0.313													11	29					0	0	0.008291	0	0
TMEM168	64418	broad.mit.edu	37	7	112424755	112424755	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:112424755G>C	uc003vgn.2	-	2	518	c.126C>G	c.(124-126)ATC>ATG	p.I42M	TMEM168_uc010lju.2_Missense_Mutation_p.I42M|TMEM168_uc011kmr.1_Intron	NM_022484	NP_071929	Q9H0V1	TM168_HUMAN	transmembrane protein 168	42	Helical; (Potential).					integral to membrane|transport vesicle				ovary(1)|central_nervous_system(1)	2						CCAATAAATTGATTCTGGCTA	0.333													20	35					0	0	0.001523	0	0
CFTR	1080	broad.mit.edu	37	7	117246789	117246789	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:117246789C>T	uc003vjd.2	+	18	3102	c.2970C>T	c.(2968-2970)ACC>ACT	p.T990T	CFTR_uc011knq.1_Silent_p.T396T	NM_000492	NP_000483	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance	990	Cytoplasmic (Potential).|ABC transmembrane type-1 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			central_nervous_system(2)|skin(2)|ovary(1)	5	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TGCCTCTTACCATATTTGACT	0.289									Cystic_Fibrosis				53	132					0	0	0.003610	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121651597	121651597	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:121651597C>T	uc003vjy.2	+	12	2892	c.2497C>T	c.(2497-2499)CGC>TGC	p.R833C	PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	833	Extracellular (Potential).				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						TGAATTGTTTCGCCATCTGCA	0.468													58	116					0	0	0.003610	0	0
SPAM1	6677	broad.mit.edu	37	7	123594488	123594488	+	Silent	SNP	T	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:123594488T>G	uc003vld.2	+	4	1266	c.864T>G	c.(862-864)GTT>GTG	p.V288V	SPAM1_uc003vle.2_Silent_p.V288V|SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vlf.3_Silent_p.V288V|SPAM1_uc010lku.2_Silent_p.V288V	NM_153189	NP_694859	P38567	HYALP_HUMAN	sperm adhesion molecule 1 isoform 2	288					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			ovary(3)|kidney(1)	4					Hyaluronidase(DB00070)	CCATCAGAGTTTCCAAAATAC	0.403													11	22					0	0	0.000978	0	0
GPR37	2861	broad.mit.edu	37	7	124387061	124387061	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:124387061G>A	uc003vli.2	-	2	2011	c.1360C>T	c.(1360-1362)CCC>TCC	p.P454S		NM_005302	NP_005293	O15354	GPR37_HUMAN	G protein-coupled receptor 37 precursor	454	Helical; Name=5; (Potential).					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			ovary(1)|lung(1)|central_nervous_system(1)	3						AAAAGCGTGGGCAAACAAAAG	0.468													19	38					0	0	0.007413	0	0
GRM8	2918	broad.mit.edu	37	7	126746637	126746637	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:126746637C>T	uc003vlr.2	-	2	951	c.640G>A	c.(640-642)GGA>AGA	p.G214R	GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.G214R|GRM8_uc010lkz.1_RNA|GRM8_uc003vlu.1_5'UTR	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	214	Extracellular (Potential).				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TAATTCCATCCCAGTGCTGTC	0.512										HNSCC(24;0.065)			22	30					0	0	0.002299	0	0
FLNC	2318	broad.mit.edu	37	7	128484727	128484728	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:128484727_128484728CC>TT	uc003vnz.3	+	21	3417_3418	c.3208_3209CC>TT	c.(3208-3210)CCG>TTG	p.P1070L	FLNC_uc003voa.3_Missense_Mutation_p.P1070L	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	1070	Filamin 9.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						TGCTTATGGCCCGGGTCTCAAG	0.653													12	43					0	0	0.004672	0	0
FLNC	2318	broad.mit.edu	37	7	128496609	128496609	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:128496609C>T	uc003vnz.3	+	44	7498	c.7289C>T	c.(7288-7290)GCC>GTC	p.A2430V	FLNC_uc003voa.3_Missense_Mutation_p.A2397V	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	2430	Filamin 22.|Interaction with INPPL1.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						GCGTCCTTTGCCGTGCAGCTG	0.647													29	40					0	0	0.002836	0	0
NRF1	4899	broad.mit.edu	37	7	129311382	129311382	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:129311382C>T	uc003voz.2	+	3	454	c.337C>T	c.(337-339)CGG>TGG	p.R113W	NRF1_uc003vpa.2_Missense_Mutation_p.R113W|NRF1_uc011kpa.1_Intron|NRF1_uc003vpb.2_Missense_Mutation_p.R113W	NM_005011	NP_005002	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	113	Nuclear localization signal.|				generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1						ACGTTTGCTTCGGTGAGGGCT	0.458													19	37					0	0	0.007413	0	0
PODXL	5420	broad.mit.edu	37	7	131189150	131189150	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:131189150C>T	uc003vqw.3	-	9	1855	c.1597G>A	c.(1597-1599)GAG>AAG	p.E533K	PODXL_uc003vqx.3_Missense_Mutation_p.E501K	NM_001018111	NP_001018121	O00592	PODXL_HUMAN	podocalyxin-like isoform 1 precursor	533	Cytoplasmic (Potential).				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				breast(2)|pancreas(1)	3	Melanoma(18;0.162)					TCCCCCAGCTCCCCGTTGAGG	0.577													22	67					0	0	0.002299	0	0
LRGUK	136332	broad.mit.edu	37	7	133861729	133861729	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:133861729G>A	uc003vrm.1	+	9	1037	c.1021G>A	c.(1021-1023)GAA>AAA	p.E341K		NM_144648	NP_653249	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain	341	LRRCT.						ATP binding|kinase activity			lung(2)|skin(2)|kidney(1)	5						TTTTAAATAGGAAAAGTCTGA	0.363													20	61					0	0	0.007413	0	0
AKR1B10	57016	broad.mit.edu	37	7	134222961	134222961	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:134222961C>T	uc003vrr.2	+	8	1077	c.757C>T	c.(757-759)CAT>TAT	p.H253Y		NM_020299	NP_064695	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10	253					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			skin(5)	5						GATCCGTTTCCATATCCAGAG	0.493													35	96					0	0	0.007835	0	0
C7orf49	78996	broad.mit.edu	37	7	134851454	134851454	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:134851454G>A	uc003vsl.2	-	4	650	c.383C>T	c.(382-384)CCG>CTG	p.P128L	C7orf49_uc003vsh.2_Intron|C7orf49_uc003vsj.2_Missense_Mutation_p.P99L|C7orf49_uc003vsk.2_RNA|C7orf49_uc003vsm.2_RNA|C7orf49_uc003vsn.2_Missense_Mutation_p.P127L|C7orf49_uc003vso.2_Missense_Mutation_p.P73L	NM_024033	NP_076938	Q9BWK5	MRI_HUMAN	modulator of retrovirus infection	128						cytoplasm				large_intestine(1)|ovary(1)	2						GGAACCCCCCGGCCTCTGGGA	0.597													24	49					0	0	0.003330	0	0
DGKI	9162	broad.mit.edu	37	7	137263039	137263039	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:137263039G>A	uc003vtt.2	-	16	1676	c.1675C>T	c.(1675-1677)CGA>TGA	p.R559*	DGKI_uc003vtu.2_Nonsense_Mutation_p.R259*	NM_004717	NP_004708	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	559					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)|skin(1)	3						ATTTTATTTCGAAAACGACTG	0.338													5	28					0	0	0.001984	0	0
LUC7L2	51631	broad.mit.edu	37	7	139090426	139090426	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:139090426A>G	uc003vux.2	+	5	777	c.403A>G	c.(403-405)AAA>GAA	p.K135E	LUC7L2_uc011kqs.1_Missense_Mutation_p.K132E|LUC7L2_uc011kqt.1_Missense_Mutation_p.K201E|LUC7L2_uc003vuy.2_Missense_Mutation_p.K134E|LUC7L2_uc003vuz.1_Missense_Mutation_p.K82E|LUC7L2_uc003vva.2_Missense_Mutation_p.K82E	NM_016019	NP_057103	Q9Y383	LC7L2_HUMAN	LUC7-like 2	135	Potential.						enzyme binding|metal ion binding				0	Melanoma(164;0.242)					AGAAATTGGTAAATTGTTAGC	0.343													5	33					0	0	0.000602	0	0
DENND2A	27147	broad.mit.edu	37	7	140221841	140221841	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:140221841C>T	uc010lnj.2	-	16	2870	c.2725G>A	c.(2725-2727)GAG>AAG	p.E909K	DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Missense_Mutation_p.E909K|DENND2A_uc003vvw.2_Missense_Mutation_p.E909K	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	909	dDENN.									ovary(3)|breast(1)	4	Melanoma(164;0.00956)					CCCACAATCTCCACGAAGAAG	0.592													9	19					0	0	0.004482	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:140453136A>T	uc003vwc.3	-	15	1860	c.1799T>A	c.(1798-1800)GTG>GAG	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	B-Raf	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(16892)|p.V600?(325)|p.V600K(176)|p.V600R(36)|p.V600M(25)|p.V600A(23)|p.V600D(21)|p.V600G(11)|p.V600_K601>E(8)|p.T599_V600insTT(3)|p.T599_R603>I(2)|p.T599_V600>IAL(2)|p.V600L(2)|p.T599_V600insT(2)|p.V600_W604del(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insV(1)|p.T599_V600insDFGLAT(1)	KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600E(UACC257_SKIN)|V600D(K029AX_SKIN)|V600E(HS695T_SKIN)|V600E(COLO679_SKIN)|V600E(BT474_BREAST)|V600E(IGR39_SKIN)|V600E(A101D_SKIN)|V600E(COLO783_SKIN)|V600E(IGR37_SKIN)|V600E(A375_SKIN)|V600E(WM793_SKIN)|V600E(COLO818_SKIN)|V600E(HS294T_SKIN)|V600E(SKMEL28_SKIN)|V600E(DU4475_BREAST)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(IGR1_SKIN)|V600E(SKHEP1_LIVER)|V600E(WM983B_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(RVH421_SKIN)|V600D(WM2664_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(SKMEL24_SKIN)|V600D(WM115_SKIN)|V600E(MALME3M_SKIN)|V600E(A673_BONE)|V600E(C32_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(COLO800_SKIN)|V600E(COLO741_SKIN)|V600E(HS939T_SKIN)|V600E(COLO205_LARGE_INTESTINE)|V600E(K029AX_SKIN)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(SH4_SKIN)|V600E(WM88_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(COLO849_SKIN)|V600E(MELHO_SKIN)|V600E(BHT101_THYROID)|V600E(G361_SKIN)|V600E(UACC62_SKIN)|V600E(BCPAP_THYROID)|V600E(8505C_THYROID)|V600E(SW1417_LARGE_INTESTINE)|V600E(COLO829_SKIN)|V600E(RKO_LARGE_INTESTINE)|V600E(A2058_SKIN)|V600E(RPMI7951_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(SKMEL5_SKIN)|V600E(ES2_OVARY)|V600E(LOXIMVI_SKIN)	61	Mis|T|O	AKAP9|KIAA1549	melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous_syndrome				21	37					0	0	0.001882	0	0
CLEC5A	23601	broad.mit.edu	37	7	141631617	141631617	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:141631617G>A	uc003vwv.1	-	6	552	c.355C>T	c.(355-357)CAG>TAG	p.Q119*	CLEC5A_uc011krm.1_Nonsense_Mutation_p.Q96*|CLEC5A_uc003vww.1_Nonsense_Mutation_p.Q118*|CLEC5A_uc010lnq.1_Nonsense_Mutation_p.Q96*|CLEC5A_uc010lnr.1_RNA	NM_013252	NP_037384	Q9NY25	CLC5A_HUMAN	C-type lectin, superfamily member 5	119	C-type lectin.|Extracellular (Potential).				anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity				0	Melanoma(164;0.0171)					GTTATGTCCTGAAGAAACTTC	0.368													20	43					0	0	0.008871	0	0
MGAM	8972	broad.mit.edu	37	7	141721447	141721447	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:141721447G>A	uc003vwy.2	+	6	674	c.620G>A	c.(619-621)GGA>GAA	p.G207E		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	207	Lumenal (Potential).|Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCCTTCAGTGGAAATGCTGCT	0.418													22	46					0	0	0.001523	0	0
MGAM	8972	broad.mit.edu	37	7	141736637	141736637	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:141736637C>T	uc003vwy.2	+	18	2145	c.2091C>T	c.(2089-2091)GCC>GCT	p.A697A		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	697	Lumenal (Potential).|Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGGATCCTGCCTCCTTTGGAG	0.502													54	122					0	0	0.003610	0	0
Unknown	0	broad.mit.edu	37	7	142499083	142499083	+	RNA	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:142499083C>T	uc011ksh.1	+	3		c.462C>T			uc011ksi.1_RNA|uc003vzw.1_RNA|uc010loj.1_RNA|uc003wad.2_RNA|uc003wag.1_3'UTR|uc003wbe.3_RNA|uc003wbf.3_RNA|uc003wbg.3_RNA|uc003wbh.3_Silent_p.I166I|uc003wbi.3_RNA|uc003wbj.3_RNA|uc003wbm.3_RNA|uc003wbn.3_RNA|uc010los.2_RNA					Homo sapiens mRNA for T-cell receptor beta chain, partial cds, clone:TCRVB.3.																		TCACCCAGATCGTCAGCGCCG	0.597													16	93					0	0	0.008871	0	0
OR9A2	135924	broad.mit.edu	37	7	142724186	142724186	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:142724186G>A	uc003wcc.1	-	1	34	c.34C>T	c.(34-36)CAC>TAC	p.H12Y		NM_001001658	NP_001001658	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A,	12	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	Melanoma(164;0.059)					CCTAGAAGGTGGAATTCAGTG	0.423													15	23					0	0	0.004990	0	0
TAS2R39	259285	broad.mit.edu	37	7	142881493	142881493	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:142881493C>T	uc011ksw.1	+	1	982	c.982C>T	c.(982-984)CGA>TGA	p.R328*		NM_176881	NP_795362	P59534	T2R39_HUMAN	taste receptor, type 2, member 39	328	Cytoplasmic (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity			skin(1)	1	Melanoma(164;0.059)					GCTTCAGCTTCGACTTCATCT	0.527													5	13					0	0	0.001168	0	0
TAS2R60	338398	broad.mit.edu	37	7	143140973	143140973	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:143140973G>A	uc011ktg.1	+	1	428	c.428G>A	c.(427-429)TGG>TAG	p.W143*	uc003wda.2_Intron	NM_177437	NP_803186	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	143	Helical; Name=4; (Potential).				sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity	p.W143*(1)		skin(6)	6	Melanoma(164;0.172)					TGGCTACCATGGATGCTCTTC	0.453													53	87					0	0	0.003610	0	0
TAS2R60	338398	broad.mit.edu	37	7	143141201	143141201	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:143141201C>A	uc011ktg.1	+	1	656	c.656C>A	c.(655-657)TCT>TAT	p.S219Y	uc003wda.2_Intron	NM_177437	NP_803186	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	219	Cytoplasmic (Potential).				sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			skin(6)	6	Melanoma(164;0.172)					CTCATCACATCTCTGGGAAGA	0.463													29	65					1.55811e-20	2.04184e-20	0.008361	1	0
OR2F2	135948	broad.mit.edu	37	7	143632869	143632869	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:143632869C>T	uc011ktv.1	+	1	544	c.544C>T	c.(544-546)CTA>TTA	p.L182L		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F,	182	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|skin(1)	4	Melanoma(164;0.0903)					CTGTGAACTCCTAGCTGTGGT	0.498													15	44					0	0	0.004007	0	0
OR2F2	135948	broad.mit.edu	37	7	143633222	143633222	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:143633222G>A	uc011ktv.1	+	1	897	c.897G>A	c.(895-897)GGG>GGA	p.G299G		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F,	299	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|skin(1)	4	Melanoma(164;0.0903)					AGGTGAAGGGGGCCTGGCATA	0.413													10	32					0	0	0.000978	0	0
OR2A5	393046	broad.mit.edu	37	7	143747706	143747706	+	Missense_Mutation	SNP	C	T	T	rs149614119	by1000genomes	TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:143747706C>T	uc011ktw.1	+	1	212	c.212C>T	c.(211-213)TCG>TTG	p.S71L		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A,	71	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3	Melanoma(164;0.0783)					ATTGATATTTCGTATGCTTCC	0.483													23	48					0	0	0.002299	0	0
NOBOX	135935	broad.mit.edu	37	7	144098309	144098309	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:144098309G>A	uc011kue.1	-	4	674	c.674C>T	c.(673-675)TCA>TTA	p.S225L		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	225					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			ovary(1)	1	Melanoma(164;0.14)					GGCACGGGCTGAGTTAGGGGC	0.592													7	18					0	0	0.006214	0	0
EZH2	2146	broad.mit.edu	37	7	148512073	148512073	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:148512073A>C	uc003wfd.1	-	14	1756	c.1590T>G	c.(1588-1590)TGT>TGG	p.C530W	EZH2_uc011kug.1_Intron|EZH2_uc003wfb.1_Missense_Mutation_p.C535W|EZH2_uc003wfc.1_Missense_Mutation_p.C491W|EZH2_uc011kuh.1_Missense_Mutation_p.C521W	NM_004456	NP_004447	Q15910	EZH2_HUMAN	enhancer of zeste 2 isoform a	530	Cys-rich.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			haematopoietic_and_lymphoid_tissue(180)|skin(2)|large_intestine(1)	183	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			ACGAACTGTCACAAGGCTGCC	0.418			Mis		DLBCL								12	34					0	0	0.001368	0	0
ZNF777	27153	broad.mit.edu	37	7	149152579	149152579	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:149152579G>A	uc003wfv.2	-	2	698	c.535C>T	c.(535-537)CCC>TCC	p.P179S		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TCTGCCGTGGGGAGCGGCTGT	0.617													29	75					0	0	0.001786	0	0
SSPO	23145	broad.mit.edu	37	7	149480748	149480748	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:149480748G>A	uc010lpk.2	+	17	2454	c.2454G>A	c.(2452-2454)AGG>AGA	p.R818R	SSPO_uc010lpl.1_Silent_p.R153R	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	818					cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTCCCTGGAGGAACCAGACCC	0.662													23	68					0	0	0.003330	0	0
GIMAP8	155038	broad.mit.edu	37	7	150171526	150171526	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:150171526G>A	uc003whj.2	+	4	1439	c.1109G>A	c.(1108-1110)GGG>GAG	p.G370E		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	370						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GAAGATTTAGGGGATCAGGAT	0.388													46	123					0	0	0.003610	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174578	150174578	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:150174578C>T	uc003whj.2	+	5	2038	c.1708C>T	c.(1708-1710)CTA>TTA	p.L570L		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	570						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GAAGGAAGACCTAGGGGCGGG	0.468													23	66					0	0	0.005443	0	0
GIMAP1	170575	broad.mit.edu	37	7	150417509	150417509	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:150417509C>T	uc003whq.2	+	3	504	c.417C>T	c.(415-417)TTC>TTT	p.F139F	GIMAP1_uc003whp.2_Silent_p.F147F	NM_130759	NP_570115	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	139	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane	GTP binding			ovary(1)|breast(1)|central_nervous_system(1)	3			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGGACATGTTCGGGGAGGACG	0.647													16	29					0	0	0.004990	0	0
SLC4A2	6522	broad.mit.edu	37	7	150761667	150761667	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:150761667C>T	uc003wit.3	+	4	528	c.272C>T	c.(271-273)CCG>CTG	p.P91L	SLC4A2_uc011kve.1_Missense_Mutation_p.P82L|SLC4A2_uc003wiu.3_Missense_Mutation_p.P77L	NM_003040	NP_003031	P04920	B3A2_HUMAN	solute carrier family 4, anion exchanger, member	91	Cytoplasmic (Potential).|Pro-rich.				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)		CACCTGCCTCCGGATGCACGC	0.687													15	24					0	0	0.004990	0	0
WDR86	349136	broad.mit.edu	37	7	151093230	151093230	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:151093230G>A	uc003wkb.2	-	3	807	c.358C>T	c.(358-360)CGG>TGG	p.R120W	WDR86_uc003wka.2_Missense_Mutation_p.R78W|WDR86_uc011kvk.1_Missense_Mutation_p.R120W|WDR86_uc003wkc.2_5'UTR	NM_198285	NP_938026	Q86TI4	WDR86_HUMAN	WD repeat domain 86	120	WD 3.										0			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTCCAGACCCGAGCTGTCCGG	0.642													20	31					0	0	0.003330	0	0
CRYGN	155051	broad.mit.edu	37	7	151133364	151133364	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:151133364C>T	uc003wke.2	-	3	414	c.318G>A	c.(316-318)ACG>ACA	p.T106T	CRYGN_uc003wkf.2_Intron|CRYGN_uc003wkg.2_RNA|CRYGN_uc010lqd.1_RNA	NM_144727	NP_653328	Q8WXF5	CRGN_HUMAN	gammaN-crystallin	106	Beta/gamma crystallin 'Greek key' 3.										0			OV - Ovarian serous cystadenocarcinoma(82;0.00358)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGCACTGGCCCGTGAAGTTGC	0.547													5	42					0	0	0.001168	0	0
GALNTL5	168391	broad.mit.edu	37	7	151664346	151664346	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:151664346A>G	uc003wkp.2	+	2	238	c.15A>G	c.(13-15)ATA>ATG	p.I5M	GALNTL5_uc003wkq.2_Translation_Start_Site|GALNTL5_uc003wkr.2_RNA|GALNTL5_uc003wks.2_RNA|GALNTL5_uc010lqf.2_Translation_Start_Site	NM_145292	NP_660335	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	5	Helical; Signal-anchor for type II membrane protein; (Potential).					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			ovary(2)	2	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		GAAATGCCATAATTCAAGGTT	0.353													14	50					0	0	0.003163	0	0
MLL3	58508	broad.mit.edu	37	7	151851144	151851144	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:151851144C>G	uc003wla.2	-	48	12446	c.12227G>C	c.(12226-12228)AGA>ACA	p.R4076T	MLL3_uc003wkz.2_Missense_Mutation_p.R3194T|MLL3_uc003wkx.2_Missense_Mutation_p.R234T|MLL3_uc003wky.2_Missense_Mutation_p.R1640T	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	4076					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		AAGACCTGATCTGGGACCATT	0.383			N		medulloblastoma								17	36					0	0	0.004990	0	0
INSIG1	3638	broad.mit.edu	37	7	155094039	155094039	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:155094039C>T	uc003wly.2	+	4	827	c.616C>T	c.(616-618)CGT>TGT	p.R206C	INSIG1_uc011kvu.1_Missense_Mutation_p.R54C|INSIG1_uc003wlz.2_Intron	NM_005542	NP_005533	O15503	INSI1_HUMAN	insulin induced gene 1 isoform 1	206	Cytoplasmic.				cell proliferation|ER-nuclear sterol response pathway	endoplasmic reticulum membrane|integral to membrane	protein binding				0	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GACATTTGATCGTTCCAGAAG	0.443													21	38					0	0	0.001523	0	0
RBM33	155435	broad.mit.edu	37	7	155530837	155530837	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:155530837A>G	uc010lqk.1	+	11	1845	c.1477A>G	c.(1477-1479)AAC>GAC	p.N493D	RBM33_uc011kvv.1_Missense_Mutation_p.N302D	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	493	Pro-rich.						nucleotide binding|RNA binding			ovary(1)	1	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		TACCCTTCTTAACAGTAGCCA	0.517													30	63					0	0	0.008361	0	0
PTPRN2	5799	broad.mit.edu	37	7	157926392	157926392	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:157926392C>T	uc003wno.2	-	9	1654	c.1533G>A	c.(1531-1533)CGG>CGA	p.R511R	PTPRN2_uc003wnp.2_Silent_p.R494R|PTPRN2_uc003wnq.2_Silent_p.R511R|PTPRN2_uc003wnr.2_Silent_p.R473R|PTPRN2_uc011kwa.1_Silent_p.R534R	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N	511	Extracellular (Potential).					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CGATGTAGCCCCGCGCCTCTT	0.662													11	43					0	0	0.001368	0	0
PTPRN2	5799	broad.mit.edu	37	7	157926726	157926726	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:157926726C>T	uc003wno.2	-	9	1320	c.1199G>A	c.(1198-1200)GGG>GAG	p.G400E	PTPRN2_uc003wnp.2_Missense_Mutation_p.G383E|PTPRN2_uc003wnq.2_Missense_Mutation_p.G400E|PTPRN2_uc003wnr.2_Missense_Mutation_p.G362E|PTPRN2_uc011kwa.1_Missense_Mutation_p.G423E	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N	400	Extracellular (Potential).					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CAGGAGGCCCCCGAGTGTGGC	0.597													18	24					0	0	0.006122	0	0
DLGAP2	9228	broad.mit.edu	37	8	1497183	1497183	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:1497183C>T	uc003wpl.2	+	2	421	c.324C>T	c.(322-324)ATC>ATT	p.I108I	DLGAP2_uc003wpm.2_Silent_p.I108I	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	discs large-associated protein 2	187					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding				0		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		TCAACCGCATCCCGGCCAACC	0.682													4	9					0	0	0.000248	0	0
DLGAP2	9228	broad.mit.edu	37	8	1581164	1581164	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:1581164C>T	uc003wpl.2	+	5	1619	c.1522C>T	c.(1522-1524)CCC>TCC	p.P508S	DLGAP2_uc003wpm.2_Missense_Mutation_p.P508S	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	discs large-associated protein 2	587					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding				0		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CGAATGTATTCCCATGATGAC	0.557													10	38					0	0	0.008291	0	0
CLN8	2055	broad.mit.edu	37	8	1728728	1728729	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:1728728_1728729CC>TT	uc003wpo.3	+	3	1161_1162	c.856_857CC>TT	c.(856-858)CCA>TTA	p.P286L		NM_018941	NP_061764	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8	286	ER-retrieval signal.				cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane				ovary(1)|central_nervous_system(1)|skin(1)	3		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		GAAGAAGAGGCCATAGCTGCTC	0.594													18	36					0	0	0.004672	0	0
CSMD1	64478	broad.mit.edu	37	8	2807756	2807756	+	Silent	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:2807756A>T	uc011kwk.1	-	67	10704	c.10314T>A	c.(10312-10314)GGT>GGA	p.G3438G	CSMD1_uc011kwj.1_Silent_p.G2752G|CSMD1_uc010lrg.2_Silent_p.G1329G	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	3438	Extracellular (Potential).					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TACTTACATAACCATCTAGTC	0.443													29	72					0	0	0.008361	0	0
CSMD1	64478	broad.mit.edu	37	8	2820090	2820090	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:2820090C>T	uc011kwk.1	-	61	9919	c.9529G>A	c.(9529-9531)GAA>AAA	p.E3177K	CSMD1_uc011kwj.1_Missense_Mutation_p.E2506K|CSMD1_uc010lrg.2_Missense_Mutation_p.E1068K	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	3177	Extracellular (Potential).|Sushi 26.					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)		AAGAAGACTTCGGACTTATAG	0.522													13	20					0	0	0.001368	0	0
CSMD1	64478	broad.mit.edu	37	8	2857480	2857480	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:2857480G>A	uc011kwk.1	-	53	8596	c.8206C>T	c.(8206-8208)CCC>TCC	p.P2736S	CSMD1_uc011kwj.1_Missense_Mutation_p.P2065S|CSMD1_uc010lrg.2_Missense_Mutation_p.P746S	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2736	Extracellular (Potential).|Sushi 18.					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)		GTGCACTTACGGACACAGACA	0.458													43	97					0	0	0.003610	0	0
CSMD1	64478	broad.mit.edu	37	8	2964161	2964161	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:2964161C>T	uc011kwk.1	-	46	7231	c.6841G>A	c.(6841-6843)GAT>AAT	p.D2281N	CSMD1_uc011kwj.1_Missense_Mutation_p.D1673N|CSMD1_uc010lrg.2_Missense_Mutation_p.D349N	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2281	Extracellular (Potential).|Sushi 13.					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)		TTCACAAAATCTCCTAGAAGA	0.468													6	17					0	0	0.001168	0	0
CSMD1	64478	broad.mit.edu	37	8	3224591	3224591	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:3224591G>A	uc011kwk.1	-	20	3471	c.3081C>T	c.(3079-3081)TTC>TTT	p.F1027F	CSMD1_uc011kwj.1_Silent_p.F419F|CSMD1_uc003wqe.2_Silent_p.F183F	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1027	Extracellular (Potential).|CUB 6.					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)		ACGAAATTGAGAAGTCTGATA	0.488													11	20					0	0	0.001368	0	0
CSMD1	64478	broad.mit.edu	37	8	3226852	3226852	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:3226852G>A	uc011kwk.1	-	19	3216	c.2826C>T	c.(2824-2826)GTC>GTT	p.V942V	CSMD1_uc011kwj.1_Silent_p.V334V|CSMD1_uc003wqe.2_Silent_p.V98V	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	942	Extracellular (Potential).|CUB 6.					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)		CAGGAGAAAGGACTGTTCCAC	0.398													7	21					0	0	0.001984	0	0
CSMD1	64478	broad.mit.edu	37	8	3889440	3889440	+	Silent	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:3889440A>T	uc011kwk.1	-	4	987	c.597T>A	c.(595-597)GCT>GCA	p.A199A		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	199	Extracellular (Potential).|Sushi 1.					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)		TGCAAAAGGGAGCTGGGAAGT	0.537													7	23					0	0	0.001984	0	0
PRSS55	203074	broad.mit.edu	37	8	10388883	10388883	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:10388883C>T	uc003wta.2	+	3	441	c.426C>T	c.(424-426)ATC>ATT	p.I142I	uc010lru.2_Intron|PRSS55_uc003wtb.2_RNA	NM_198464	NP_940866	Q6UWB4	PRS55_HUMAN	hypothetical protein LOC203074 precursor	142	Extracellular (Potential).|Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			ovary(1)	1						TCGCCAGCATCATTCTTCACA	0.512													49	88					0	0	0.003610	0	0
RP1L1	94137	broad.mit.edu	37	8	10467248	10467248	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:10467248G>A	uc003wtc.2	-	4	4589	c.4360C>T	c.(4360-4362)CCT>TCT	p.P1454S		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1454					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		AGATGACTAGGGGGCTCTGTG	0.637													28	58					0	0	0.005443	0	0
RP1L1	94137	broad.mit.edu	37	8	10470221	10470221	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:10470221C>A	uc003wtc.2	-	4	1616	c.1387G>T	c.(1387-1389)GAG>TAG	p.E463*		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	463					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		TCCGAGCCCTCGGGGAGGCCG	0.716													16	39					1.15919e-05	1.5029e-05	0.008871	1	0
RP1L1	94137	broad.mit.edu	37	8	10470338	10470338	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:10470338T>C	uc003wtc.2	-	4	1499	c.1270A>G	c.(1270-1272)AAG>GAG	p.K424E		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	424					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		CCCCACCTCTTCCGAGCTGCC	0.662													16	25					0	0	0.006122	0	0
TUSC3	7991	broad.mit.edu	37	8	15508281	15508281	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:15508281C>T	uc003wwt.2	+	3	594	c.384C>T	c.(382-384)TTC>TTT	p.F128F	TUSC3_uc003wwr.2_Silent_p.F128F|TUSC3_uc003wws.2_Silent_p.F128F|TUSC3_uc003wwu.2_Silent_p.F128F|TUSC3_uc003wwv.2_Silent_p.F128F|TUSC3_uc003www.2_Silent_p.F128F|TUSC3_uc003wwx.2_RNA|TUSC3_uc003wwy.2_Silent_p.F128F	NM_006765	NP_006756	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3 isoform a	128					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				ovary(2)|central_nervous_system(1)	3				Colorectal(111;0.113)		AGCTCTTCTTCAGTATGGTGG	0.373													47	114					0	0	0.003610	0	0
MSR1	4481	broad.mit.edu	37	8	16026226	16026226	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:16026226C>T	uc003wwz.2	-	4	569	c.371G>A	c.(370-372)AGA>AAA	p.R124K	MSR1_uc010lsu.2_Missense_Mutation_p.R142K|MSR1_uc003wxa.2_Missense_Mutation_p.R124K|MSR1_uc003wxb.2_Missense_Mutation_p.R124K|MSR1_uc011kxz.1_Intron	NM_138715	NP_619729	P21757	MSRE_HUMAN	macrophage scavenger receptor 1 isoform type 1	124	Extracellular (Potential).				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			ovary(1)	1				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		ATGCTGGATTCTCTTCTCCAT	0.378													46	116					0	0	0.003610	0	0
EFHA2	286097	broad.mit.edu	37	8	16961967	16961967	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:16961967G>T	uc003wxd.2	+	10	1094	c.1052G>T	c.(1051-1053)GGA>GTA	p.G351V		NM_181723	NP_859074	Q86XE3	EFHA2_HUMAN	EF-hand domain family, member A2	351						integral to membrane	calcium ion binding			skin(1)	1				Colorectal(111;0.0686)|COAD - Colon adenocarcinoma(73;0.239)		GGAAAGAAAGGAAAAGCTGAG	0.279													17	68					1.33834e-09	1.74413e-09	0.007413	1	0
XPO7	23039	broad.mit.edu	37	8	21847913	21847913	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:21847913C>T	uc003xaa.3	+	17	2029	c.1927C>T	c.(1927-1929)CAC>TAC	p.H643Y	XPO7_uc010lti.2_Missense_Mutation_p.H652Y|XPO7_uc010ltk.2_Missense_Mutation_p.H644Y	NM_015024	NP_055839	Q9UIA9	XPO7_HUMAN	exportin 7 isoform b	643					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			ovary(1)|kidney(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		GCTGAACAATCACACGGTGAG	0.463													29	92					0	0	0.007291	0	0
ADAM7	8756	broad.mit.edu	37	8	24324313	24324313	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:24324313G>A	uc003xeb.2	+	6	504	c.391G>A	c.(391-393)GGA>AGA	p.G131R	ADAM7_uc003xea.1_Missense_Mutation_p.G131R	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	a disintegrin and metalloproteinase domain 7	131	Extracellular (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(1)|kidney(1)	5		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TTTCTACAGGGGATTCTTCAG	0.378													16	43					0	0	0.006122	0	0
ADAM7	8756	broad.mit.edu	37	8	24344783	24344783	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:24344783C>T	uc003xeb.2	+	11	1157	c.1044C>T	c.(1042-1044)TTC>TTT	p.F348F	ADAM7_uc003xec.2_Silent_p.F120F	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	a disintegrin and metalloproteinase domain 7	348	Peptidase M12B.|Extracellular (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(1)|kidney(1)	5		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		ATGACGAGTTCCCATGCACCT	0.403													11	27					0	0	0.001368	0	0
ADAM7	8756	broad.mit.edu	37	8	24350739	24350739	+	Silent	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:24350739A>G	uc003xeb.2	+	16	1952	c.1839A>G	c.(1837-1839)GGA>GGG	p.G613G	ADAM7_uc003xec.2_Silent_p.G385G	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	a disintegrin and metalloproteinase domain 7	613	Extracellular (Potential).|Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(1)|kidney(1)	5		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		GTGGAGAGGGAATGGTAAGAC	0.363													8	31					0	0	0.003080	0	0
ADRA1A	148	broad.mit.edu	37	8	26722229	26722229	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:26722229G>A	uc003xfh.1	-	1	694	c.258C>T	c.(256-258)TTC>TTT	p.F86F	ADRA1A_uc003xfc.1_Silent_p.F86F|ADRA1A_uc010lul.1_Silent_p.F86F|ADRA1A_uc003xfd.1_RNA|ADRA1A_uc003xfe.1_Silent_p.F86F|ADRA1A_uc010lum.1_Silent_p.F86F|ADRA1A_uc003xff.1_RNA|ADRA1A_uc003xfg.1_Silent_p.F86F	NM_000680	NP_000671	P35348	ADA1A_HUMAN	alpha-1A-adrenergic receptor isoform 1	86	Helical; Name=2; (By similarity).				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|ovary(1)|lung(1)|skin(1)	5		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	CTAGGACCTCGAAGATGGCGG	0.622													24	68					0	0	0.003954	0	0
EPHX2	2053	broad.mit.edu	37	8	27396186	27396186	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:27396186C>T	uc003xfu.2	+	14	1334	c.1253C>T	c.(1252-1254)TCC>TTC	p.S418F	EPHX2_uc010lut.1_Missense_Mutation_p.S418F|EPHX2_uc010luu.2_Missense_Mutation_p.S386F|EPHX2_uc010luv.2_Missense_Mutation_p.S352F|EPHX2_uc003xfv.2_Missense_Mutation_p.S365F|EPHX2_uc010luw.2_Missense_Mutation_p.S352F	NM_001979	NP_001970	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	418	Epoxide hydrolase.				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity			ovary(1)	1		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)	AGTGTTTTATCCATGCATAAA	0.408													10	20					0	0	0.001855	0	0
CLU	1191	broad.mit.edu	37	8	27457476	27457476	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:27457476C>T	uc003xfw.1	-	6	1043	c.985G>A	c.(985-987)GAA>AAA	p.E329K	CLU_uc010lux.1_Missense_Mutation_p.E194K|CLU_uc003xfx.1_Missense_Mutation_p.E329K|CLU_uc003xfy.1_Missense_Mutation_p.E340K|CLU_uc003xfz.1_Missense_Mutation_p.E381K	NM_203339	NP_976084	P10909	CLUS_HUMAN	clusterin isoform 2	329					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			ovary(2)	2		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		TGGAGGGATTCGTCGAGCTCC	0.557													10	34					0	0	0.001368	0	0
SCARA5	286133	broad.mit.edu	37	8	27729540	27729540	+	Nonsense_Mutation	SNP	C	A	A	rs141131600		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:27729540C>A	uc003xgj.2	-	9	1839	c.1399G>T	c.(1399-1401)GAA>TAA	p.E467*	SCARA5_uc010luz.2_Nonsense_Mutation_p.E242*	NM_173833	NP_776194	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	467	SRCR.|Extracellular (Potential).				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|skin(1)	2		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		AAGATGGTTTCCTCTGTGCCC	0.552													16	34					1.02788e-11	1.34252e-11	0.004990	1	0
Unknown	0	broad.mit.edu	37	8	30209619	30209619	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:30209619C>T	uc003xhz.2	+	1	101	c.96C>T	c.(94-96)CCC>CCT	p.P32P						SubName: Full=Class IVb beta tubulin;																		GCATCGACCCCACTGGCACCT	0.562													6	20					0	0	0.001984	0	0
MAK16	84549	broad.mit.edu	37	8	33347814	33347814	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:33347814T>C	uc003xjj.2	+	6	444	c.404T>C	c.(403-405)GTT>GCT	p.V135A	C8orf41_uc010lvu.1_Intron	NM_032509	NP_115898	Q9BXY0	MAK16_HUMAN	MAK16 homolog	135						nucleolus				ovary(1)	1						AGGAAACTTGTTCCTTTGAGT	0.373													13	25					0	0	0.003163	0	0
UNC5D	137970	broad.mit.edu	37	8	35608148	35608148	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:35608148G>A	uc003xjr.1	+	13	2312	c.1984G>A	c.(1984-1986)GAC>AAC	p.D662N	UNC5D_uc003xjs.1_Missense_Mutation_p.D657N|UNC5D_uc003xju.1_Missense_Mutation_p.D238N	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D precursor	662	Cytoplasmic (Potential).				apoptosis|axon guidance	integral to membrane	receptor activity			upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CTGCCTTTTGGACCCCTTTGC	0.478													22	75					0	0	0.005443	0	0
PPAPDC1B	84513	broad.mit.edu	37	8	38124821	38124821	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:38124821C>T	uc003xlf.3	-	5	448	c.427G>A	c.(427-429)GAG>AAG	p.E143K	PPAPDC1B_uc003xle.3_Missense_Mutation_p.E102K|PPAPDC1B_uc003xlg.3_Missense_Mutation_p.E143K|PPAPDC1B_uc010lwd.2_Missense_Mutation_p.E143K	NM_001102559	NP_001096029	Q8NEB5	PPC1B_HUMAN	phosphatidic acid phosphatase type 2 domain	143					phospholipid dephosphorylation	cytoplasm|integral to membrane|plasma membrane	phosphatidate phosphatase activity				0	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)	BRCA - Breast invasive adenocarcinoma(5;3.04e-26)|COAD - Colon adenocarcinoma(9;0.188)			TTTCGGCCCTCATTCACCACG	0.473													18	43					0	0	0.008871	0	0
FGFR1	2260	broad.mit.edu	37	8	38277080	38277080	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:38277080T>C	uc003xlp.2	-	9	2197	c.1255A>G	c.(1255-1257)AAG>GAG	p.K419E	FGFR1_uc010lwf.2_5'Flank|FGFR1_uc011lbo.1_Missense_Mutation_p.K417E|FGFR1_uc011lbp.1_Missense_Mutation_p.K330E|FGFR1_uc011lbq.1_Missense_Mutation_p.K328E|FGFR1_uc010lwk.2_Missense_Mutation_p.K411E|FGFR1_uc011lbr.1_RNA|FGFR1_uc011lbs.1_Missense_Mutation_p.K259E|FGFR1_uc011lbt.1_3'UTR|FGFR1_uc011lbu.1_Missense_Mutation_p.K450E|FGFR1_uc011lbv.1_Missense_Mutation_p.K417E|FGFR1_uc011lbw.1_Missense_Mutation_p.K330E	NM_023110	NP_075598	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1 isoform 1	419	Cytoplasmic (Potential).				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity			lung(5)|central_nervous_system(5)|stomach(2)|breast(2)|ovary(1)	15	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	GGGATGCTCTTGGCCAGCTTG	0.552		1	T	BCR|FOP|ZNF198|CEP1	MPD|NHL		Pfeiffer syndrome|Kallman syndrome						13	32					0	0	0.002450	0	0
FGFR1	2260	broad.mit.edu	37	8	38282038	38282038	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:38282038G>A	uc003xlp.2	-	7	1867	c.925C>T	c.(925-927)CAG>TAG	p.Q309*	FGFR1_uc011lbo.1_Nonsense_Mutation_p.Q307*|FGFR1_uc011lbp.1_Nonsense_Mutation_p.Q220*|FGFR1_uc011lbq.1_Nonsense_Mutation_p.Q218*|FGFR1_uc010lwk.2_Nonsense_Mutation_p.Q301*|FGFR1_uc011lbr.1_RNA|FGFR1_uc011lbs.1_Nonsense_Mutation_p.Q149*|FGFR1_uc011lbt.1_Nonsense_Mutation_p.Q218*|FGFR1_uc011lbu.1_Nonsense_Mutation_p.Q340*|FGFR1_uc011lbv.1_Nonsense_Mutation_p.Q307*|FGFR1_uc011lbw.1_Nonsense_Mutation_p.Q220*|FGFR1_uc011lbx.1_Nonsense_Mutation_p.Q220*|FGFR1_uc003xlv.2_Nonsense_Mutation_p.Q220*|FGFR1_uc003xlu.2_Nonsense_Mutation_p.Q218*	NM_023110	NP_075598	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1 isoform 1	309	Ig-like C2-type 3.|Extracellular (Potential).				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity			lung(5)|central_nervous_system(5)|stomach(2)|breast(2)|ovary(1)	15	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	TTCAAGATCTGGACATAAGGC	0.552		1	T	BCR|FOP|ZNF198|CEP1	MPD|NHL		Pfeiffer syndrome|Kallman syndrome						27	53					0	0	0.006320	0	0
ADAM32	203102	broad.mit.edu	37	8	39068812	39068812	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:39068812G>A	uc003xmt.3	+	12	1447	c.1202G>A	c.(1201-1203)GGA>GAA	p.G401E	ADAM32_uc011lch.1_Intron|ADAM32_uc003xmu.3_Intron	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	a disintegrin and metalloprotease domain 32	401	Disintegrin.|Extracellular (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)|kidney(1)	3		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			AGATTGGAGGGAAATGAAATC	0.318													7	9					0	0	0.001984	0	0
ADAM18	8749	broad.mit.edu	37	8	39564342	39564342	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:39564342C>T	uc003xni.2	+	18	1936	c.1936C>T	c.(1936-1938)CCT>TCT	p.P646S	ADAM18_uc010lww.2_RNA|ADAM18_uc010lwx.2_Missense_Mutation_p.P622S	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	a disintegrin and metalloprotease domain 18	646	EGF-like.|Extracellular (Potential).				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)|kidney(1)|skin(1)	6		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TCAATGCTTCCCTGGACATAG	0.353													27	67					0	0	0.001786	0	0
ANK1	286	broad.mit.edu	37	8	41529905	41529905	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:41529905G>A	uc003xok.2	-	38	5147	c.5063C>T	c.(5062-5064)ACC>ATC	p.T1688I	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.T842I|ANK1_uc003xoi.2_Missense_Mutation_p.T1688I|ANK1_uc003xoj.2_Missense_Mutation_p.T1688I|ANK1_uc003xol.2_Missense_Mutation_p.T1526I|ANK1_uc003xom.2_Missense_Mutation_p.T1729I	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	1688	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CTGACTCACGGTGGGGGAATG	0.562													28	42					0	0	0.007291	0	0
IKBKB	3551	broad.mit.edu	37	8	42176873	42176873	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:42176873G>A	uc003xow.1	+	14	1627	c.1450G>A	c.(1450-1452)GAT>AAT	p.D484N	IKBKB_uc010lxh.1_Missense_Mutation_p.D379N|IKBKB_uc011lco.1_RNA|IKBKB_uc010lxj.1_Missense_Mutation_p.D261N|IKBKB_uc003xox.1_Missense_Mutation_p.D205N|IKBKB_uc011lcp.1_RNA|IKBKB_uc011lcq.1_Missense_Mutation_p.D482N|IKBKB_uc010lxi.1_RNA|IKBKB_uc011lcr.1_Missense_Mutation_p.D425N	NM_001556	NP_001547	O14920	IKKB_HUMAN	inhibitor of nuclear factor kappa B kinase beta	484					anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(3)|ovary(2)|lung(1)|skin(1)	7	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	GGCCAAGTTGGATTTCTTCAA	0.473											OREG0018747	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	57					0	0	0.001882	0	0
CHRNA6	8973	broad.mit.edu	37	8	42611871	42611871	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:42611871G>A	uc003xpj.2	-	5	517	c.471C>T	c.(469-471)TCC>TCT	p.S157S	CHRNA6_uc011lcw.1_Silent_p.S142S	NM_004198	NP_004189	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6	157	Extracellular.					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CCATAGGGCAGGAACTCTTAA	0.393													31	72					0	0	0.002096	0	0
PRKDC	5591	broad.mit.edu	37	8	48749903	48749903	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:48749903G>A	uc003xqi.2	-	58	7688	c.7631C>T	c.(7630-7632)TCC>TTC	p.S2544F	PRKDC_uc003xqj.2_Missense_Mutation_p.S2544F|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	2544	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AGAATATAAGGAATTTAGTGC	0.373								NHEJ					6	34					0	0	0.001168	0	0
RP1	6101	broad.mit.edu	37	8	55537550	55537550	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:55537550C>T	uc003xsd.1	+	4	1256	c.1108C>T	c.(1108-1110)CCA>TCA	p.P370S	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	370					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)			GATGAGTTTTCCAGGAAGAAC	0.398													10	25					0	0	0.001368	0	0
RP1	6101	broad.mit.edu	37	8	55540040	55540040	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:55540040G>A	uc003xsd.1	+	4	3746	c.3598G>A	c.(3598-3600)GAA>AAA	p.E1200K	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	1200					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)			CAGTGAGAAAGAACAAGACAT	0.413													28	55					0	0	0.002445	0	0
RP1	6101	broad.mit.edu	37	8	55541654	55541654	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:55541654G>A	uc003xsd.1	+	4	5360	c.5212G>A	c.(5212-5214)GGA>AGA	p.G1738R	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	1738					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)			CATAGAGGAAGGAGTACTGAT	0.413													14	27					0	0	0.002450	0	0
XKR4	114786	broad.mit.edu	37	8	56436118	56436118	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:56436118G>A	uc003xsf.2	+	3	1317	c.1285G>A	c.(1285-1287)GAA>AAA	p.E429K		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related	429	Helical; (Potential).					integral to membrane				pancreas(2)	2			Epithelial(17;0.000117)|all cancers(17;0.000836)			CACCAAATGGGAAGAGATTGT	0.448													47	115					0	0	0.003610	0	0
TGS1	96764	broad.mit.edu	37	8	56723525	56723525	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:56723525C>T	uc003xsj.3	+	11	2616	c.2229C>T	c.(2227-2229)TTC>TTT	p.F743F	TGS1_uc010lyh.2_Intron	NM_024831	NP_079107	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase homolog	743	Sufficient for catalytic activity.				cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity			ovary(1)|lung(1)|breast(1)	3		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			AGATAGAGTTCATCTGTGGAG	0.448													46	102					0	0	0.003610	0	0
CA8	767	broad.mit.edu	37	8	61192324	61192324	+	Silent	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:61192324T>C	uc003xtz.1	-	2	464	c.216A>G	c.(214-216)CCA>CCG	p.P72P	CA8_uc003xua.1_Silent_p.P72P|CA8_uc003xub.2_Silent_p.P72P	NM_004056	NP_004047	P35219	CAH8_HUMAN	carbonic anhydrase VIII	72					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding				0		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)				CCACATAATTTGGGGAGAGGC	0.438													18	37					0	0	0.007413	0	0
CLVS1	157807	broad.mit.edu	37	8	62212800	62212800	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:62212800G>A	uc003xuh.2	+	2	738	c.414G>A	c.(412-414)AGG>AGA	p.R138R	CLVS1_uc003xug.2_Silent_p.R138R|CLVS1_uc003xui.2_Intron|CLVS1_uc010lyp.2_Silent_p.R138R	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	retinaldehyde binding protein 1-like 1	138	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			skin(4)|ovary(1)	5						ATTACGGCAGGAAGATTCTTT	0.448													12	31					0	0	0.001855	0	0
CYP7B1	9420	broad.mit.edu	37	8	65528446	65528446	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:65528446T>A	uc003xvj.2	-	3	856	c.652A>T	c.(652-654)AAA>TAA	p.K218*		NM_004820	NP_004811	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B,	218					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			ovary(3)	3		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				TCATCAAATTTTAAAAAATCA	0.284													19	40					0	0	0.008871	0	0
CYP7B1	9420	broad.mit.edu	37	8	65528455	65528455	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:65528455C>T	uc003xvj.2	-	3	847	c.643G>A	c.(643-645)GAT>AAT	p.D215N		NM_004820	NP_004811	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B,	215					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			ovary(3)	3		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				TTTAAAAAATCATCTCTTAGC	0.284													16	39					0	0	0.003163	0	0
CSPP1	79848	broad.mit.edu	37	8	68007875	68007876	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:68007875_68007876CC>TT	uc003xxi.2	+	8	994_995	c.963_964CC>TT	c.(961-966)GACCAA>GATTAA	p.Q322*	CSPP1_uc003xxg.1_Nonsense_Mutation_p.Q314*|CSPP1_uc003xxh.1_RNA|CSPP1_uc003xxj.2_Nonsense_Mutation_p.Q287*|CSPP1_uc003xxk.2_5'UTR	NM_001077204	NP_001070672	Q1MSJ5	CSPP1_HUMAN	centrosome spindle pole associated protein 1	322						centrosome|microtubule|spindle				ovary(3)|breast(2)	5	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			ATAGACCAGACCAAGATCCTGA	0.361													12	48					0	0	0.004672	0	0
CPA6	57094	broad.mit.edu	37	8	68658276	68658276	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:68658276C>G	uc003xxq.3	-	1	345	c.89G>C	c.(88-90)AGC>ACC	p.S30T	CPA6_uc003xxr.3_5'UTR|CPA6_uc003xxs.2_Missense_Mutation_p.S30T	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6 isoform 1 precursor	30					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			ATAAAGGTGGCTGTGCCCCGG	0.532													14	23					0	0	0.003163	0	0
PREX2	80243	broad.mit.edu	37	8	68956771	68956771	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:68956771C>T	uc003xxv.1	+	8	916	c.889C>T	c.(889-891)CGT>TGT	p.R297C	PREX2_uc003xxu.1_Missense_Mutation_p.R297C|PREX2_uc011lez.1_Missense_Mutation_p.R232C	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	297	PH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						GTACCTTTTTCGTGGCCGGAT	0.398													41	88					0	0	0.003610	0	0
PREX2	80243	broad.mit.edu	37	8	68989694	68989694	+	Silent	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:68989694T>C	uc003xxv.1	+	15	1659	c.1632T>C	c.(1630-1632)TTT>TTC	p.F544F	PREX2_uc003xxu.1_Silent_p.F544F|PREX2_uc011lez.1_Silent_p.F479F	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	544	DEP 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						ACAATGGATTTATGCACCATG	0.453													15	53					0	0	0.004990	0	0
PREX2	80243	broad.mit.edu	37	8	69020425	69020425	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:69020425T>A	uc003xxv.1	+	24	2824	c.2797T>A	c.(2797-2799)TTC>ATC	p.F933I	PREX2_uc011lez.1_Missense_Mutation_p.F868I	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	933					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						CAGCAGTGATTTCTGCCCTAC	0.423													15	37					0	0	0.004007	0	0
PREX2	80243	broad.mit.edu	37	8	69021805	69021805	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:69021805C>T	uc003xxv.1	+	25	3120	c.3093C>T	c.(3091-3093)GGC>GGT	p.G1031G	PREX2_uc011lez.1_Silent_p.G966G	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	1031					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						AACTGCTGGGCAAACTTCAGA	0.418													20	83					0	0	0.001882	0	0
C8orf34	116328	broad.mit.edu	37	8	69699744	69699744	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:69699744G>A	uc010lyz.2	+	12	1313	c.1264G>A	c.(1264-1266)GAA>AAA	p.E422K	C8orf34_uc003xyb.2_Missense_Mutation_p.E397K	NM_052958	NP_443190	Q49A92	CH034_HUMAN	hypothetical protein LOC116328	422					signal transduction		cAMP-dependent protein kinase regulator activity			large_intestine(1)	1			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CACAGAAAGTGAAGGAGTGGA	0.353													6	17					0	0	0.004482	0	0
JPH1	56704	broad.mit.edu	37	8	75156789	75156789	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:75156789G>A	uc003yae.2	-	4	1920	c.1880C>T	c.(1879-1881)CCT>CTT	p.P627L	JPH1_uc003yaf.2_Missense_Mutation_p.P627L|JPH1_uc003yag.1_Missense_Mutation_p.P491L	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	junctophilin 1	627	Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				ovary(1)	1	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			TTCCAAAGCAGGGCATGAATC	0.433													24	71					0	0	0.002780	0	0
ZFHX4	79776	broad.mit.edu	37	8	77617513	77617513	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:77617513G>A	uc003yav.2	+	2	1577	c.1190G>A	c.(1189-1191)GGG>GAG	p.G397E	ZFHX4_uc003yat.1_Missense_Mutation_p.G397E|ZFHX4_uc003yau.1_Missense_Mutation_p.G397E|ZFHX4_uc003yaw.1_Missense_Mutation_p.G397E	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	397						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAGCCGCTGGGGATTACCCAA	0.527										HNSCC(33;0.089)			9	21					0	0	0.004482	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767085	77767085	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:77767085G>A	uc003yav.2	+	10	8180	c.7793G>A	c.(7792-7794)GGG>GAG	p.G2598E	ZFHX4_uc003yau.1_Missense_Mutation_p.G2643E|ZFHX4_uc003yaw.1_Missense_Mutation_p.G2598E	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2598	Homeobox 3.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CGCGAAGTCGGGCTGAAAAAA	0.512										HNSCC(33;0.089)			18	40					0	0	0.007413	0	0
ZNF704	619279	broad.mit.edu	37	8	81582739	81582739	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:81582739C>T	uc003yby.1	-	5	890	c.658G>A	c.(658-660)GGG>AGG	p.G220R		NM_001033723	NP_001028895	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	220						intracellular	zinc ion binding				0	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			CTGCCTTACCCCAGATGGATG	0.522													11	64					0	0	0.000978	0	0
IMPA1	3612	broad.mit.edu	37	8	82571638	82571638	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:82571638C>T	uc003ych.2	-	9	909	c.782G>A	c.(781-783)AGG>AAG	p.R261K	IMPA1_uc011lfq.1_Missense_Mutation_p.R320K|IMPA1_uc011lfr.1_3'UTR	NM_005536	NP_005527	P29218	IMPA1_HUMAN	inositol(myo)-1(or 4)-monophosphatase 1 isoform	261					inositol phosphate dephosphorylation|phosphatidylinositol biosynthetic process|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity			skin(1)	1					Lithium(DB01356)	TTTAGCTATCCTTTCTGCTAA	0.358													18	57					0	0	0.001523	0	0
CHMP4C	92421	broad.mit.edu	37	8	82667692	82667692	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:82667692G>A	uc003ycl.2	+	3	630	c.456G>A	c.(454-456)CGG>CGA	p.R152R		NM_152284	NP_689497	Q96CF2	CHM4C_HUMAN	chromatin modifying protein 4C	152	Intramolecular interaction with C- terminus (By similarity).|Potential.				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding			ovary(2)	2						TTTCTCAACGGGTTGGCTTTG	0.413													15	30					0	0	0.004990	0	0
PSKH2	85481	broad.mit.edu	37	8	87076244	87076244	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:87076244T>C	uc011lfy.1	-	2	802	c.802A>G	c.(802-804)ACA>GCA	p.T268A		NM_033126	NP_149117	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	268	Protein kinase.						ATP binding|protein serine/threonine kinase activity			stomach(2)|lung(2)|ovary(1)	5			STAD - Stomach adenocarcinoma(118;0.129)			TAAAGCCTTGTCTGGCTTTCA	0.388													3	44					0	0	0.004672	0	0
CPNE3	8895	broad.mit.edu	37	8	87570629	87570629	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:87570629G>A	uc003ydv.2	+	17	1767	c.1605G>A	c.(1603-1605)CAG>CAA	p.Q535Q	CPNE3_uc003ydw.1_Silent_p.Q251Q	NM_003909	NP_003900	O75131	CPNE3_HUMAN	copine III	535					lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity			ovary(1)|skin(1)	2						CGAAACAACAGAAGCAGTGAC	0.473													20	52					0	0	0.003330	0	0
CNGB3	54714	broad.mit.edu	37	8	87616323	87616323	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:87616323G>A	uc003ydx.2	-	15	1825	c.1779C>T	c.(1777-1779)ATC>ATT	p.I593I	CNGB3_uc010maj.2_Intron	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	593	Cytoplasmic (Potential).|cGMP (By similarity).				signal transduction|visual perception	integral to membrane	cGMP binding			ovary(2)|pancreas(1)	3						TCAGATACCTGATTTCTCCAA	0.373													9	23					0	0	0.006214	0	0
CNGB3	54714	broad.mit.edu	37	8	87683197	87683197	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:87683197G>A	uc003ydx.2	-	4	514	c.468C>T	c.(466-468)TCC>TCT	p.S156S	CNGB3_uc010maj.2_Silent_p.S18S	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	156	Cytoplasmic (Potential).		S -> F (in ACHM3).		signal transduction|visual perception	integral to membrane	cGMP binding			ovary(2)|pancreas(1)	3						CTTCGGGTGAGGAGAGATCTC	0.458													47	157					0	0	0.003610	0	0
RUNX1T1	862	broad.mit.edu	37	8	93003912	93003912	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:93003912G>A	uc003yfd.2	-	6	1030	c.946C>T	c.(946-948)CGA>TGA	p.R316*	RUNX1T1_uc003yfc.1_Nonsense_Mutation_p.R289*|RUNX1T1_uc003yfe.1_Nonsense_Mutation_p.R279*|RUNX1T1_uc010mao.2_Nonsense_Mutation_p.R289*|RUNX1T1_uc011lgi.1_Nonsense_Mutation_p.R327*|RUNX1T1_uc010man.1_5'UTR|RUNX1T1_uc003yfb.1_Nonsense_Mutation_p.R279*	NM_175634	NP_783552	Q06455	MTG8_HUMAN	acute myelogenous leukemia 1 translocation 1	316					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CTGGGGTGTCGATAGGAGTCC	0.547													36	78					0	0	0.002222	0	0
KIAA1429	25962	broad.mit.edu	37	8	95500960	95500960	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:95500960G>A	uc003ygo.1	-	24	5426	c.5413C>T	c.(5413-5415)CGT>TGT	p.R1805C	KIAA1429_uc010maz.1_RNA	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	hypothetical protein LOC25962 isoform 1	1805					mRNA processing|RNA splicing	nucleus				ovary(1)|skin(1)	2	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			CGTACATGACGACCTCTACCA	0.448													44	87					0	0	0.003610	0	0
ESRP1	54845	broad.mit.edu	37	8	95658469	95658469	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:95658469C>T	uc003ygq.3	+	4	632	c.449C>T	c.(448-450)TCA>TTA	p.S150L	ESRP1_uc003ygr.3_Missense_Mutation_p.S150L|ESRP1_uc003ygs.3_Missense_Mutation_p.S150L|ESRP1_uc003ygt.3_Missense_Mutation_p.S150L|ESRP1_uc003ygu.3_Missense_Mutation_p.S150L|ESRP1_uc003ygv.2_5'UTR|ESRP1_uc003ygw.2_5'UTR	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	RNA binding motif protein 35A isoform 1	150					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	prostate(4)	4						TGCCCTGGTTCACCTGATATT	0.348													142	299					0	0	0.003610	0	0
ESRP1	54845	broad.mit.edu	37	8	95680343	95680343	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:95680343T>A	uc003ygq.3	+	10	1281	c.1098T>A	c.(1096-1098)GAT>GAA	p.D366E	ESRP1_uc003ygr.3_Missense_Mutation_p.D366E|ESRP1_uc003ygs.3_Missense_Mutation_p.D366E|ESRP1_uc003ygt.3_Missense_Mutation_p.D366E|ESRP1_uc003ygu.3_Missense_Mutation_p.D366E|ESRP1_uc003ygv.2_Missense_Mutation_p.D206E|ESRP1_uc003ygw.2_Missense_Mutation_p.D206E	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	RNA binding motif protein 35A isoform 1	366	RRM 2.				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	prostate(4)	4						CCTACCCAGATGGTAGGCCAA	0.493													120	257					0	0	0.003610	0	0
INTS8	55656	broad.mit.edu	37	8	95848801	95848801	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:95848801C>T	uc003yhb.2	+	7	929	c.803C>T	c.(802-804)TCA>TTA	p.S268L	INTS8_uc003yha.1_Missense_Mutation_p.S268L|INTS8_uc011lgq.1_RNA|INTS8_uc011lgr.1_RNA|INTS8_uc010mba.2_Missense_Mutation_p.S95L	NM_017864	NP_060334	Q75QN2	INT8_HUMAN	integrator complex subunit 8	268	TPR 1.				snRNA processing	integrator complex	protein binding				0	Breast(36;1.05e-06)					TCCACAAATTCAGCTGTCTAT	0.358													105	247					0	0	0.003610	0	0
C8orf38	137682	broad.mit.edu	37	8	96044253	96044253	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:96044253C>T	uc003yhj.2	+	2	244	c.228C>T	c.(226-228)TCC>TCT	p.S76S	C8orf38_uc003yhe.1_RNA|C8orf38_uc003yhf.2_5'UTR|C8orf38_uc011lgs.1_RNA|C8orf38_uc003yhi.2_Silent_p.S24S|C8orf38_uc003yhk.2_RNA|C8orf38_uc003yhl.2_5'UTR	NM_152416	NP_689629	Q330K2	CH038_HUMAN	hypothetical protein LOC137682 precursor	76					biosynthetic process	mitochondrion	transferase activity				0	Breast(36;3.32e-06)					ATTTATGCTCCCTGCTGCTCC	0.393													132	341					0	0	0.003610	0	0
RPL30	6156	broad.mit.edu	37	8	99057237	99057237	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:99057237G>A	uc003yif.2	-	3	171	c.101C>T	c.(100-102)ACT>ATT	p.T34I	RPL30_uc010mbk.1_Missense_Mutation_p.T34I|SNORA72_uc003yig.1_5'Flank	NM_000989	NP_000980	P62888	RL30_HUMAN	ribosomal protein L30	34					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome				0	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.192)			CATCTTCAGAGTCTGCTTGTA	0.463													61	130					0	0	0.003610	0	0
VPS13B	157680	broad.mit.edu	37	8	100654161	100654161	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:100654161G>A	uc003yiv.2	+	34	5529	c.5418G>A	c.(5416-5418)GTG>GTA	p.V1806V	VPS13B_uc003yiw.2_Silent_p.V1781V	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	1806					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCAGAATAGTGCAAATAGAGC	0.433													21	36					0	0	0.002299	0	0
UBR5	51366	broad.mit.edu	37	8	103311161	103311161	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:103311161G>A	uc003ykr.1	-	25	3274	c.3241C>T	c.(3241-3243)CGA>TGA	p.R1081*	UBR5_uc003yks.1_Nonsense_Mutation_p.R1081*	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	1081					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)			TTCGCCTTTCGATCCTTGGAT	0.378													16	42					0	0	0.006122	0	0
DPYS	1807	broad.mit.edu	37	8	105456639	105456639	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:105456639C>T	uc003yly.3	-	4	759	c.630G>A	c.(628-630)GGG>GGA	p.G210G		NM_001385	NP_001376	Q14117	DPYS_HUMAN	dihydropyrimidinase	210					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GGCCTGTTATCCCCAGAGCCA	0.502													8	29					0	0	0.004482	0	0
ANGPT1	284	broad.mit.edu	37	8	108334338	108334338	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:108334338G>A	uc003ymn.2	-	4	1062	c.594C>T	c.(592-594)ATC>ATT	p.I198I	ANGPT1_uc011lhv.1_5'UTR|ANGPT1_uc003ymo.2_Silent_p.I198I|ANGPT1_uc003ymp.3_5'UTR	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	angiopoietin 1 precursor	198	Potential.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			ovary(3)|skin(3)|upper_aerodigestive_tract(1)	7	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			CCATTTCTAAGATTTTATGTT	0.308													11	34					0	0	0.000978	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110453035	110453035	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:110453035G>A	uc003yne.2	+	33	4157	c.4053G>A	c.(4051-4053)AGG>AGA	p.R1351R		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	1351	Extracellular (Potential).|IPT/TIG 7.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCACCATAAGGGGTTTTGGAT	0.378										HNSCC(38;0.096)			45	108					0	0	0.003610	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110487439	110487439	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:110487439T>A	uc003yne.2	+	51	8802	c.8698T>A	c.(8698-8700)TTT>ATT	p.F2900I		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	2900	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TAACTGGTATTTTAAAGGTGT	0.328										HNSCC(38;0.096)			23	44					0	0	0.002299	0	0
CSMD3	114788	broad.mit.edu	37	8	113599308	113599308	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:113599308C>T	uc003ynu.2	-	23	4031	c.3872G>A	c.(3871-3873)GGA>GAA	p.G1291E	CSMD3_uc003yns.2_Missense_Mutation_p.G563E|CSMD3_uc003ynt.2_Missense_Mutation_p.G1251E|CSMD3_uc011lhx.1_Missense_Mutation_p.G1187E	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1291	Extracellular (Potential).|CUB 7.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						AAGAACATCTCCTTGTGCTAA	0.274										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			17	49					0	0	0.004007	0	0
RAD21	5885	broad.mit.edu	37	8	117861238	117861238	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:117861238G>A	uc003yod.2	-	13	1939	c.1651C>T	c.(1651-1653)CAG>TAG	p.Q551*		NM_006265	NP_006256	O60216	RAD21_HUMAN	RAD21 homolog	551					apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			lung(1)|skin(1)	2	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					CTTTCTTCCTGATCTTGATCG	0.413													51	113					0	0	0.003610	0	0
COL14A1	7373	broad.mit.edu	37	8	121357668	121357669	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:121357668_121357669CC>TT	uc003yox.2	+	45	5208_5209	c.4943_4944CC>TT	c.(4942-4944)TCC>TTT	p.S1648F	COL14A1_uc003yoz.2_Missense_Mutation_p.S613F	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	1648					cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CACTCCTCATCCATCCGGACTG	0.589													12	53					0	0	0.004672	0	0
KLHL38	340359	broad.mit.edu	37	8	124663913	124663913	+	Silent	SNP	G	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:124663913G>C	uc003yqs.1	-	1	1278	c.1254C>G	c.(1252-1254)CCC>CCG	p.P418P		NM_001081675	NP_001075144	Q2WGJ6	KLH38_HUMAN	kelch-like 38	418	Kelch 3.										0						GCACCCCCACGGGCATGCTGG	0.557													11	28					0	0	0.008291	0	0
KIAA0196	9897	broad.mit.edu	37	8	126061373	126061373	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:126061373G>A	uc003yrt.2	-	19	2583	c.2254C>T	c.(2254-2256)CAT>TAT	p.H752Y	KIAA0196_uc011lir.1_Missense_Mutation_p.H604Y|KIAA0196_uc003yru.1_Missense_Mutation_p.H326Y	NM_014846	NP_055661	Q12768	STRUM_HUMAN	strumpellin	752					cell death	WASH complex				ovary(2)	2	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			AAAGAACGATGGAATCCATCC	0.413													10	31					0	0	0.008291	0	0
EFR3A	23167	broad.mit.edu	37	8	133008666	133008666	+	Silent	SNP	T	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:133008666T>G	uc003yte.2	+	19	2280	c.2079T>G	c.(2077-2079)CTT>CTG	p.L693L		NM_015137	NP_055952	Q14156	EFR3A_HUMAN	EFR3 homolog A	693						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)			AAGATCGACTTTCTAGAAGAA	0.308													10	12					0	0	0.000978	0	0
FAM135B	51059	broad.mit.edu	37	8	139149481	139149481	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:139149481G>A	uc003yuy.2	-	19	4095	c.3924C>T	c.(3922-3924)GTC>GTT	p.V1308V	FAM135B_uc003yux.2_Silent_p.V1209V|FAM135B_uc003yuz.2_RNA	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	1308										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CAACCAGCACGACGTTTTTAA	0.423										HNSCC(54;0.14)			36	73					0	0	0.006230	0	0
FAM135B	51059	broad.mit.edu	37	8	139153502	139153502	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:139153502G>A	uc003yuy.2	-	17	3900	c.3729C>T	c.(3727-3729)TTC>TTT	p.F1243F	FAM135B_uc003yux.2_Silent_p.F1144F|FAM135B_uc003yuz.2_RNA	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	1243										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AGAGTGACAGGAACGTGTGGA	0.502										HNSCC(54;0.14)			25	40					0	0	0.005443	0	0
FAM135B	51059	broad.mit.edu	37	8	139160820	139160820	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:139160820C>T	uc003yuy.2	-	14	3562	c.3391G>A	c.(3391-3393)GAG>AAG	p.E1131K	FAM135B_uc003yux.2_Missense_Mutation_p.E1032K|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.E693K|FAM135B_uc003yvb.2_Missense_Mutation_p.R658K	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	1131										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTTTCTTCCTCTTCCTCTGGT	0.373										HNSCC(54;0.14)			7	30					0	0	0.003080	0	0
FAM135B	51059	broad.mit.edu	37	8	139163683	139163683	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:139163683G>A	uc003yuy.2	-	13	3206	c.3035C>T	c.(3034-3036)TCC>TTC	p.S1012F	FAM135B_uc003yux.2_Missense_Mutation_p.S913F|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.S574F|FAM135B_uc003yvb.2_Missense_Mutation_p.S574F	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	1012										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AGTCAGATGGGACCCCATGAT	0.507										HNSCC(54;0.14)			9	22					0	0	0.008291	0	0
FAM135B	51059	broad.mit.edu	37	8	139163756	139163756	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:139163756T>G	uc003yuy.2	-	13	3133	c.2962A>C	c.(2962-2964)ACT>CCT	p.T988P	FAM135B_uc003yux.2_Missense_Mutation_p.T889P|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.T550P|FAM135B_uc003yvb.2_Missense_Mutation_p.T550P	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	988										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGGGTCACAGTGGGGCACACA	0.493										HNSCC(54;0.14)			14	31					0	0	0.002450	0	0
FAM135B	51059	broad.mit.edu	37	8	139189659	139189659	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:139189659C>T	uc003yuy.2	-	11	1205	c.1034G>A	c.(1033-1035)CGA>CAA	p.R345Q	FAM135B_uc003yux.2_Missense_Mutation_p.R246Q|FAM135B_uc003yuz.2_RNA	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	345										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AGAAAACCTTCGGACCTGCAG	0.378										HNSCC(54;0.14)			7	15					0	0	0.004482	0	0
COL22A1	169044	broad.mit.edu	37	8	139661981	139661981	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:139661981G>A	uc003yvd.2	-	46	3821	c.3374C>T	c.(3373-3375)CCT>CTT	p.P1125L	COL22A1_uc011ljo.1_Missense_Mutation_p.P405L	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1125	Pro-rich.|Gly-rich.|Collagen-like 10.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TGGTAGACCAGGGAGGCCTGG	0.512										HNSCC(7;0.00092)			12	45					0	0	0.003163	0	0
COL22A1	169044	broad.mit.edu	37	8	139707092	139707092	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:139707092C>T	uc003yvd.2	-	33	3070	c.2623G>A	c.(2623-2625)GAT>AAT	p.D875N	COL22A1_uc011ljo.1_Missense_Mutation_p.D175N	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	875	Pro-rich.|Gly-rich.|Collagen-like 7.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			AGGCCTGGATCGCCCTTCTCT	0.602										HNSCC(7;0.00092)			5	37					0	0	0.001168	0	0
COL22A1	169044	broad.mit.edu	37	8	139824047	139824047	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:139824047C>T	uc003yvd.2	-	9	1891	c.1444G>A	c.(1444-1446)GAG>AAG	p.E482K		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	482	Collagen-like 1.|Pro-rich.|Gly-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			AATACCTTCTCTCCAGCTGGG	0.602										HNSCC(7;0.00092)			19	36					0	0	0.002299	0	0
BAI1	575	broad.mit.edu	37	8	143599524	143599524	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:143599524C>T	uc003ywm.2	+	18	3026	c.2843C>T	c.(2842-2844)TCG>TTG	p.S948L		NM_001702	NP_001693	O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	948	Extracellular (Potential).				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					ACTCTGCCGTCGGTGACGCTC	0.647													15	52					0	0	0.007413	0	0
C8orf31	286122	broad.mit.edu	37	8	144130644	144130644	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:144130644G>A	uc003yxp.1	+	5	726	c.374G>A	c.(373-375)GGG>GAG	p.G125E	C8orf31_uc003yxq.1_RNA|C8orf31_uc003yxr.1_RNA	NM_173687	NP_775958	Q8N9H6	CH031_HUMAN	hypothetical protein LOC286122	125										ovary(1)	1	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					cggcaccacgggaaccacctt	0.025													16	45					0	0	0.004990	0	0
TIGD5	84948	broad.mit.edu	37	8	144680968	144680968	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:144680968G>A	uc003yyx.1	+	1	748	c.748G>A	c.(748-750)GAC>AAC	p.D250N	EEF1D_uc011lki.1_5'Flank|EEF1D_uc011lkj.1_5'Flank|EEF1D_uc003yyr.2_5'Flank|EEF1D_uc003yyt.2_5'Flank|EEF1D_uc011lkk.1_5'Flank|EEF1D_uc003yys.2_5'Flank|EEF1D_uc003yyv.2_5'Flank|EEF1D_uc003yyu.2_5'Flank|EEF1D_uc011lkl.1_5'Flank	NM_032862	NP_116251	Q53EQ6	TIGD5_HUMAN	tigger transposable element derived 5	299					regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding				0	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GCGGCTGCCGGACCCGCCCAG	0.627													7	17					0	0	0.001984	0	0
CPSF1	29894	broad.mit.edu	37	8	145619979	145619980	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:145619979_145619980GG>AA	uc003zcj.2	-	31	3521_3522	c.3446_3447CC>TT	c.(3445-3447)CCC>CTT	p.P1149L	MIR939_hsa-mir-939|MI0005761_5'Flank	NM_013291	NP_037423	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1,	1149					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			skin(1)	1	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GGCCAGGCTCGGGCACCACCTC	0.51													9	24					0	0	0.004672	0	0
SLC39A4	55630	broad.mit.edu	37	8	145641266	145641266	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:145641266C>T	uc003zcq.2	-	2	502	c.402G>A	c.(400-402)AAG>AAA	p.K134K	SLC39A4_uc003zcm.1_5'Flank|SLC39A4_uc003zcn.2_5'Flank|SLC39A4_uc003zco.2_5'Flank|SLC39A4_uc003zcp.2_Silent_p.K109K	NM_130849	NP_570901	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter),	134	Extracellular (Potential).					cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			GGGTCAGGGCCTTGGGGCTCT	0.701													3	7					0	0	0.000248	0	0
FOXH1	8928	broad.mit.edu	37	8	145699683	145699683	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:145699683T>A	uc003zdc.2	-	3	1615	c.1036A>T	c.(1036-1038)AGC>TGC	p.S346C		NM_003923	NP_003914	O75593	FOXH1_HUMAN	forkhead box H1	346	SMAD-interaction domain (SID).|SMAD interaction motif (SIM).				axial mesoderm development|blood vessel development|cell migration involved in gastrulation|embryonic heart tube anterior/posterior pattern formation|floor plate formation|heart looping|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|specification of organ position|transforming growth factor beta receptor signaling pathway	activin responsive factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|R-SMAD 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	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.76e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CGAGGGTGGCTGACCCAAACG	0.672													9	33					0	0	0.004482	0	0
DOCK8	81704	broad.mit.edu	37	9	406929	406929	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:406929G>A	uc003zgf.2	+	28	3503	c.3391_splice	c.e28-1	p.N1131_splice	DOCK8_uc010mgu.2_Splice_Site_p.N433_splice|DOCK8_uc010mgv.2_Splice_Site_p.N1031_splice|DOCK8_uc003zgk.2_Splice_Site_p.N589_splice	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8						blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)	6		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CGTTTCTGTAGAACTCAAGCT	0.537													27	102					0	0	0.007291	0	0
DOCK8	81704	broad.mit.edu	37	9	432316	432316	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:432316C>T	uc003zgf.2	+	37	4889	c.4777C>T	c.(4777-4779)CCC>TCC	p.P1593S	DOCK8_uc010mgu.2_Missense_Mutation_p.P895S|DOCK8_uc010mgv.2_Missense_Mutation_p.P1493S|DOCK8_uc003zgk.2_Missense_Mutation_p.P1051S	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1593	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)	6		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GACTCCTTTTCCCACCCAGGT	0.388													18	71					0	0	0.002299	0	0
DMRT3	58524	broad.mit.edu	37	9	990519	990519	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:990519G>A	uc003zgw.1	+	2	971	c.933G>A	c.(931-933)GGG>GGA	p.G311G		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor	311					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			ovary(2)|central_nervous_system(1)	3		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		CCTCCAATGGGCACATCTTTG	0.562													8	37					0	0	0.006214	0	0
DMRT2	10655	broad.mit.edu	37	9	1056231	1056231	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:1056231C>T	uc003zha.2	+	4	844	c.644C>T	c.(643-645)CCA>CTA	p.P215L	DMRT2_uc003zgx.3_5'UTR|DMRT2_uc010mgz.2_5'UTR|DMRT2_uc003zgy.3_Missense_Mutation_p.P59L|DMRT2_uc003zhb.3_3'UTR|DMRT2_uc011llt.1_3'UTR|DMRT2_uc011llu.1_3'UTR|DMRT2_uc011llv.1_Missense_Mutation_p.P215L	NM_181872	NP_870987	Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor	215					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity				0		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		CGCCCCATTCCAGCGGAGACT	0.448													38	65					0	0	0.005524	0	0
VLDLR	7436	broad.mit.edu	37	9	2651472	2651472	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:2651472C>T	uc003zhk.1	+	16	2706	c.2309C>T	c.(2308-2310)TCA>TTA	p.S770L	VLDLR_uc003zhl.1_Intron|VLDLR_uc003zhm.1_Intron|VLDLR_uc003zhn.1_Intron	NM_003383	NP_003374	P98155	VLDLR_HUMAN	very low density lipoprotein receptor isoform a	770	Extracellular (Potential).|Clustered O-linked oligosaccharides.				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		ACAGAAATTTCAGCAACTAGT	0.383													8	23					0	0	0.006214	0	0
JAK2	3717	broad.mit.edu	37	9	5044441	5044441	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:5044441G>A	uc010mhm.2	+	4	502	c.389G>A	c.(388-390)AGA>AAA	p.R130K	JAK2_uc003ziw.2_Missense_Mutation_p.R130K	NM_004972	NP_004963	O60674	JAK2_HUMAN	Janus kinase 2	130	Interaction with cytokine/interferon/growth hormone receptors (By similarity).|FERM.				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)		GGCAGCAACAGAGCCTATCGG	0.378		1	T|Mis|O	ETV6|PCM1|BCR	ALL|AML|MPD| CML				Polycythemia_Vera_Familial				33	52					0	0	0.004289	0	0
ERMP1	79956	broad.mit.edu	37	9	5797900	5797900	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:5797900G>A	uc003zjm.1	-	13	2357	c.2303C>T	c.(2302-2304)TCT>TTT	p.S768F	ERMP1_uc011lme.1_RNA|ERMP1_uc010mhs.1_Missense_Mutation_p.S382F	NM_024896	NP_079172	Q7Z2K6	ERMP1_HUMAN	aminopeptidase Fxna	768	Extracellular (Potential).				proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity			ovary(1)	1		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		ATTTCTTGGAGAAACTTCTGG	0.373													43	130					0	0	0.003214	0	0
KIAA2026	158358	broad.mit.edu	37	9	5968635	5968635	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:5968635G>A	uc003zjq.3	-	3	1812	c.1596C>T	c.(1594-1596)CCC>CCT	p.P532P		NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	hypothetical protein LOC158358	532										ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TGAAGGAAGAGGGCAGGCTAT	0.368													68	94					0	0	0.003610	0	0
TPD52L3	89882	broad.mit.edu	37	9	6328868	6328868	+	Silent	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:6328868A>G	uc003zjw.2	+	1	494	c.273A>G	c.(271-273)AAA>AAG	p.K91K	TPD52L3_uc003zjv.2_Silent_p.K91K|TPD52L3_uc003zjx.1_Silent_p.K91K	NM_033516	NP_277051	Q96J77	TPD55_HUMAN	protein kinase NYD-SP25 isoform 1	91							protein binding				0		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)		CCTATGTGAAACAGAAGACAT	0.517													21	32					0	0	0.001882	0	0
PTPRD	5789	broad.mit.edu	37	9	8484171	8484171	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:8484171C>T	uc003zkk.2	-	29	4072	c.3361G>A	c.(3361-3363)GAT>AAT	p.D1121N	PTPRD_uc003zkp.2_Missense_Mutation_p.D710N|PTPRD_uc003zkq.2_Missense_Mutation_p.D710N|PTPRD_uc003zkr.2_Missense_Mutation_p.D705N|PTPRD_uc003zks.2_Missense_Mutation_p.D700N|PTPRD_uc003zkl.2_Missense_Mutation_p.D1112N|PTPRD_uc003zkm.2_Missense_Mutation_p.D1108N|PTPRD_uc003zkn.2_Missense_Mutation_p.D710N|PTPRD_uc003zko.2_Missense_Mutation_p.D707N	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1121	Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ATCATGCCATCCAAGTTGGTC	0.458										TSP Lung(15;0.13)			39	67					0	0	0.007835	0	0
PTPRD	5789	broad.mit.edu	37	9	8484184	8484184	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:8484184C>T	uc003zkk.2	-	29	4059	c.3348G>A	c.(3346-3348)GGG>GGA	p.G1116G	PTPRD_uc003zkp.2_Silent_p.G705G|PTPRD_uc003zkq.2_Silent_p.G705G|PTPRD_uc003zkr.2_Silent_p.G700G|PTPRD_uc003zks.2_Silent_p.G695G|PTPRD_uc003zkl.2_Silent_p.G1107G|PTPRD_uc003zkm.2_Silent_p.G1103G|PTPRD_uc003zkn.2_Silent_p.G705G|PTPRD_uc003zko.2_Silent_p.G702G	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1116	Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AGTTGGTCTTCCCAATGAAGG	0.473										TSP Lung(15;0.13)			17	82					0	0	0.008871	0	0
PTPRD	5789	broad.mit.edu	37	9	8518111	8518111	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:8518111C>T	uc003zkk.2	-	20	1991	c.1280G>A	c.(1279-1281)CGA>CAA	p.R427Q	PTPRD_uc003zkp.2_Missense_Mutation_p.R427Q|PTPRD_uc003zkq.2_Missense_Mutation_p.R427Q|PTPRD_uc003zkr.2_Missense_Mutation_p.R421Q|PTPRD_uc003zks.2_Missense_Mutation_p.R417Q|PTPRD_uc003zkl.2_Missense_Mutation_p.R427Q|PTPRD_uc003zkm.2_Missense_Mutation_p.R414Q|PTPRD_uc003zkn.2_Missense_Mutation_p.R427Q|PTPRD_uc003zko.2_Missense_Mutation_p.R424Q	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	427	Fibronectin type-III 2.|Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ACTCAACATTCGTGCCTGGAC	0.502										TSP Lung(15;0.13)			28	103					0	0	0.007291	0	0
PTPRD	5789	broad.mit.edu	37	9	8518298	8518298	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:8518298C>T	uc003zkk.2	-	20	1804	c.1093G>A	c.(1093-1095)GAA>AAA	p.E365K	PTPRD_uc003zkp.2_Missense_Mutation_p.E365K|PTPRD_uc003zkq.2_Missense_Mutation_p.E365K|PTPRD_uc003zkr.2_Missense_Mutation_p.E359K|PTPRD_uc003zks.2_Missense_Mutation_p.E355K|PTPRD_uc003zkl.2_Missense_Mutation_p.E365K|PTPRD_uc003zkm.2_Missense_Mutation_p.E352K|PTPRD_uc003zkn.2_Missense_Mutation_p.E365K|PTPRD_uc003zko.2_Missense_Mutation_p.E362K	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	365	Fibronectin type-III 1.|Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TTGTAAAGTTCCTCAGAGTTT	0.458										TSP Lung(15;0.13)			43	79					0	0	0.008740	0	0
PTPRD	5789	broad.mit.edu	37	9	8524996	8524996	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:8524996C>T	uc003zkk.2	-	17	1319	c.608G>A	c.(607-609)GGA>GAA	p.G203E	PTPRD_uc003zkp.2_Missense_Mutation_p.G203E|PTPRD_uc003zkq.2_Missense_Mutation_p.G203E|PTPRD_uc003zkr.2_Missense_Mutation_p.G197E|PTPRD_uc003zks.2_Missense_Mutation_p.G197E|PTPRD_uc003zkl.2_Missense_Mutation_p.G203E|PTPRD_uc003zkm.2_Missense_Mutation_p.G194E|PTPRD_uc003zkn.2_Missense_Mutation_p.G203E|PTPRD_uc003zko.2_Missense_Mutation_p.G200E	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	203	Extracellular (Potential).|Ig-like C2-type 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CTCATATTTTCCTTGGTCAGA	0.343										TSP Lung(15;0.13)			44	123					0	0	0.003610	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18622265	18622265	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:18622265G>A	uc003zne.3	+	5	626	c.499G>A	c.(499-501)GGA>AGA	p.G167R	ADAMTSL1_uc003znb.2_Missense_Mutation_p.G167R|ADAMTSL1_uc003znc.3_Missense_Mutation_p.G167R	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1 isoform 4 precursor	167						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5				GBM - Glioblastoma multiforme(50;1.29e-17)		TCACCAGCTGGGAAGCACCGT	0.517													24	18					0	0	0.005443	0	0
KIAA1797	54914	broad.mit.edu	37	9	20990235	20990235	+	Silent	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:20990235T>C	uc003zog.1	+	44	5481	c.5118T>C	c.(5116-5118)AAT>AAC	p.N1706N	KIAA1797_uc003zoh.1_Silent_p.N1142N	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	hypothetical protein LOC54914	1706						integral to membrane	binding			ovary(8)|breast(1)|kidney(1)	10				GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)		ATCAGGAGAATGGCCCGGCTG	0.582													14	17					0	0	0.003163	0	0
NDUFB6	4712	broad.mit.edu	37	9	32572894	32572895	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:32572894_32572895GG>AA	uc003zre.1	-	1	288_289	c.164_165CC>TT	c.(163-165)TCC>TTT	p.S55F	NDUFB6_uc003zrf.1_Missense_Mutation_p.S55F	NM_002493	NP_002484	O95139	NDUB6_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta	55					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity				0			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00199)	NADH(DB00157)	TCCTCCAAGGGGATTTATTCTC	0.574											OREG0019131	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	68					0	0	0.004672	0	0
TAF1L	138474	broad.mit.edu	37	9	32632307	32632307	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:32632307G>A	uc003zrg.1	-	1	3361	c.3271C>T	c.(3271-3273)CTA>TTA	p.L1091L	uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	1091					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TTGTTCTGTAGGTCAAAGATA	0.443													46	53					0	0	0.002222	0	0
NFX1	4799	broad.mit.edu	37	9	33295248	33295248	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:33295248C>T	uc003zsq.2	+	2	917	c.856C>T	c.(856-858)CTC>TTC	p.L286F	SUGT1P1_uc010mjq.1_Intron|NFX1_uc011lnw.1_Missense_Mutation_p.L286F|NFX1_uc003zso.2_Missense_Mutation_p.L286F|NFX1_uc003zsp.1_Missense_Mutation_p.L286F|NFX1_uc010mjr.1_Missense_Mutation_p.L286F|NFX1_uc003zsr.2_Missense_Mutation_p.L286F	NM_002504	NP_002495	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	286					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		AAAGGATGACCTCAATGAAAG	0.512													11	46					0	0	0.001368	0	0
IL11RA	3590	broad.mit.edu	37	9	34655248	34655248	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:34655248C>T	uc003zvi.2	+	2	1390	c.34C>T	c.(34-36)CTG>TTG	p.L12L	IL11RA_uc011loq.1_Silent_p.L12L|IL11RA_uc003zvj.2_Silent_p.L12L|IL11RA_uc003zvk.2_Silent_p.L12L|IL11RA_uc010mke.2_5'UTR|IL11RA_uc003zvl.2_RNA	NM_004512	NP_004503	Q14626	I11RA_HUMAN	interleukin 11 receptor, alpha isoform 1	12						integral to plasma membrane	cytokine receptor activity			skin(1)	1	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)	GAGCAGGGTCCTGGTGGCCGT	0.637													12	10					0	0	0.003163	0	0
C9orf131	138724	broad.mit.edu	37	9	35044975	35044975	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:35044975G>A	uc003zvw.2	+	2	2378	c.2349G>A	c.(2347-2349)TGG>TGA	p.W783*	C9orf131_uc003zvu.2_Nonsense_Mutation_p.W735*|C9orf131_uc003zvv.2_Nonsense_Mutation_p.W710*|C9orf131_uc003zvx.2_Nonsense_Mutation_p.W748*	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	hypothetical protein LOC138724 isoform A	783											0	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			CCTGGCAGTGGAGTAGAGAGC	0.582													43	60					0	0	0.002522	0	0
PIGO	84720	broad.mit.edu	37	9	35091309	35091309	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:35091309A>G	uc003zwd.2	-	7	2971	c.2575T>C	c.(2575-2577)TTC>CTC	p.F859L	PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwe.2_Intron|PIGO_uc003zwf.2_Intron|PIGO_uc003zwg.1_Missense_Mutation_p.F422L	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	859	Helical; (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			large_intestine(1)|ovary(1)|skin(1)	3			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AGAAGCAGGAACACAAGGCTG	0.522													12	35					0	0	0.001855	0	0
UNC13B	10497	broad.mit.edu	37	9	35380572	35380573	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:35380572_35380573CC>TT	uc003zwq.2	+	17	2356_2357	c.2064_2065CC>TT	c.(2062-2067)TTCCTT>TTTTTT	p.L689F	UNC13B_uc003zwr.2_Missense_Mutation_p.L689F	NM_006377	NP_006368	O14795	UN13B_HUMAN	UNC13 (C. elegans)-like	689	C2 2.				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			ovary(3)|large_intestine(1)|skin(1)	5	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CTGATGATTTCCTTGGCCAAAC	0.505													36	51					0	0	0.004672	0	0
TESK1	7016	broad.mit.edu	37	9	35606057	35606057	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:35606057G>C	uc003zxa.2	+	2	632	c.296G>C	c.(295-297)CGG>CCG	p.R99P	TESK1_uc003zwz.1_RNA|TESK1_uc010mks.2_5'UTR	NM_006285	NP_006276	Q15569	TESK1_HUMAN	testis-specific protein kinase 1	99	Protein kinase.				cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)|breast(2)|lung(1)|ovary(1)|skin(1)	7			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AACACACTACGGGAAGTGCAG	0.617													3	67					0	0	0.004672	0	0
CD72	971	broad.mit.edu	37	9	35618284	35618284	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:35618284G>A	uc003zxb.2	-	1	141	c.17C>T	c.(16-18)ACC>ATC	p.T6I	CD72_uc003zxc.1_5'UTR|CD72_uc010mkt.1_5'UTR|CD72_uc010mku.2_Missense_Mutation_p.T6I|CD72_uc010mkv.2_Missense_Mutation_p.T6I|CD72_uc010mkw.1_Intron	NM_001782	NP_001773	P21854	CD72_HUMAN	CD72 molecule	6	Cytoplasmic (Potential).				axon guidance|cell adhesion	integral to plasma membrane	receptor binding|sugar binding|transmembrane receptor activity				0			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ATCTGCATAGGTGATGGCCTC	0.577													16	24					0	0	0.001523	0	0
TPM2	7169	broad.mit.edu	37	9	35685713	35685713	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:35685713G>A	uc003zxq.2	-	3	544	c.305C>T	c.(304-306)GCC>GTC	p.A102V	TPM2_uc003zxr.2_Missense_Mutation_p.A102V|TPM2_uc003zxs.2_Missense_Mutation_p.A102V|TPM2_uc010mkz.2_Missense_Mutation_p.A102V|TPM2_uc011lpa.1_Missense_Mutation_p.A102V	NM_213674	NP_998839	P07951	TPM2_HUMAN	tropomyosin 2 (beta) isoform 2	102	By similarity.				muscle filament sliding|regulation of ATPase activity	cytosol|muscle thin filament tropomyosin	actin binding|structural constituent of muscle			ovary(1)	1	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCGCTCCTGGGCCCGGTCCAG	0.657													38	47					0	0	0.005524	0	0
TLN1	7094	broad.mit.edu	37	9	35705810	35705810	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:35705810G>A	uc003zxt.2	-	42	5904	c.5550C>T	c.(5548-5550)TTC>TTT	p.F1850F		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	talin 1	1850	Interaction with SYNM.				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)			GGTAATCCACGAAGGAACCTT	0.557													56	89					0	0	0.003610	0	0
TLN1	7094	broad.mit.edu	37	9	35707805	35707805	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:35707805G>A	uc003zxt.2	-	35	4909	c.4555C>T	c.(4555-4557)CCT>TCT	p.P1519S		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	talin 1	1519	Interaction with SYNM.				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)			TTGGCAGTAGGATTGGTGGTA	0.537													40	119					0	0	0.006999	0	0
OR13J1	392309	broad.mit.edu	37	9	35869612	35869612	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:35869612T>G	uc011lph.1	-	1	787	c.787A>C	c.(787-789)AAG>CAG	p.K263Q		NM_001004487	NP_001004487	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J,	263	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			TCCTTACTCTTGGGCTTCAAG	0.542													9	38					0	0	0.001368	0	0
FRMPD1	22844	broad.mit.edu	37	9	37746220	37746221	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:37746220_37746221CC>TT	uc004aag.1	+	16	4235_4236	c.4191_4192CC>TT	c.(4189-4194)AGCCAC>AGTTAC	p.H1398Y	FRMPD1_uc004aah.1_Missense_Mutation_p.H1398Y	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1398						cytoskeleton|cytosol|plasma membrane				ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9				GBM - Glioblastoma multiforme(29;0.00655)		CGAGGAAAAGCCACATCTGGCC	0.653													13	11					0	0	0.004672	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39149935	39149935	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:39149935G>A	uc004abi.2	-	10	1756	c.1517C>T	c.(1516-1518)CCC>CTC	p.P506L	CNTNAP3_uc004abj.2_Missense_Mutation_p.P506L|CNTNAP3_uc011lqr.1_Intron|CNTNAP3_uc004abk.1_Missense_Mutation_p.P506L|CNTNAP3_uc011lqs.1_Intron|CNTNAP3_uc004abl.1_Intron	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	cell recognition molecule CASPR3 precursor	506	Extracellular (Potential).|Laminin G-like 2.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			ovary(1)	1				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CCCTCCCAGGGGGCTTTTACA	0.498													10	33					0	0	0.000978	0	0
FAM75A3	727830	broad.mit.edu	37	9	40705656	40705656	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:40705656C>T	uc010mmj.2	+	4	3342	c.3313C>T	c.(3313-3315)CCC>TCC	p.P1105S		NM_001083124	NP_001076593	Q5VYP0	F75A3_HUMAN	hypothetical protein LOC727830	1105						integral to membrane				ovary(2)|skin(1)	3				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GCCAATGTTTCCCCCTATTCA	0.483													112	334					0	0	0.003610	0	0
Unknown	0	broad.mit.edu	37	9	66513925	66513925	+	RNA	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:66513925T>C	uc010mnh.1	-	6		c.823A>G								Homo sapiens cDNA FLJ20444 fis, clone KAT05128.																		ATAAGTCAGCTTGAGGAGTGG	0.488													4	87					0	0	0.003080	0	0
PRKACG	5568	broad.mit.edu	37	9	71628484	71628484	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:71628484G>A	uc004agy.2	-	1	556	c.525C>T	c.(523-525)ATC>ATT	p.I175I		NM_002732	NP_002723	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic,	175	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			ovary(1)|pancreas(1)|skin(1)	3						CCTGCTGGTCGATGAGGAGAT	0.642													9	10					0	0	0.004482	0	0
APBA1	320	broad.mit.edu	37	9	72130931	72130931	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:72130931C>T	uc004ahh.2	-	2	1472	c.1196G>A	c.(1195-1197)GGA>GAA	p.G399E		NM_001163	NP_001154	Q02410	APBA1_HUMAN	amyloid beta A4 precursor protein-binding,	399	LIN-2/CASK binding.|Pro-rich.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				lung(1)	1						ACTTACATCTCCGTCCATCGG	0.632													31	55					0	0	0.003271	0	0
C9orf135	138255	broad.mit.edu	37	9	72520940	72520940	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:72520940G>A	uc004ahl.2	+	6	643	c.578G>A	c.(577-579)GGT>GAT	p.G193D	C9orf135_uc011lrw.1_3'UTR|C9orf135_uc010moq.2_Missense_Mutation_p.G85D|C9orf135_uc011lrx.1_RNA|C9orf135_uc010mop.2_3'UTR	NM_001010940	NP_001010940	Q5VTT2	CI135_HUMAN	hypothetical protein LOC138255	193	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1						GATCTAAATGGTTCTAAAAGA	0.378													24	57					0	0	0.005443	0	0
MAMDC2	256691	broad.mit.edu	37	9	72724680	72724680	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:72724680C>T	uc004ahm.2	+	4	1082	c.465C>T	c.(463-465)ATC>ATT	p.I155I	MAMDC2_uc004ahn.2_RNA	NM_153267	NP_694999	Q7Z304	MAMC2_HUMAN	MAM domain containing 2 precursor	155	MAM 1.					endoplasmic reticulum|membrane				central_nervous_system(1)|pancreas(1)	2						CAGCCAGCATCGCACTATTTG	0.378													36	75					0	0	0.007835	0	0
TRPM3	80036	broad.mit.edu	37	9	73167918	73167918	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:73167918C>T	uc004aid.2	-	23	3624	c.3380G>A	c.(3379-3381)TGG>TAG	p.W1127*	TRPM3_uc004ahu.2_Nonsense_Mutation_p.W969*|TRPM3_uc004ahv.2_Nonsense_Mutation_p.W929*|TRPM3_uc004ahw.2_Nonsense_Mutation_p.W999*|TRPM3_uc004ahx.2_Nonsense_Mutation_p.W986*|TRPM3_uc004ahy.2_Nonsense_Mutation_p.W989*|TRPM3_uc004ahz.2_Nonsense_Mutation_p.W976*|TRPM3_uc004aia.2_Nonsense_Mutation_p.W974*|TRPM3_uc004aib.2_Nonsense_Mutation_p.W964*|TRPM3_uc004aic.2_Nonsense_Mutation_p.W1127*	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	1152	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						CTGAAACTTCCAGACTTGGTT	0.413													47	91					0	0	0.003610	0	0
TMEM2	23670	broad.mit.edu	37	9	74319652	74319652	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:74319652T>C	uc011lsa.1	-	18	3593	c.3053A>G	c.(3052-3054)AAC>AGC	p.N1018S	TMEM2_uc011lrz.1_Missense_Mutation_p.N11S|TMEM2_uc010mos.2_Missense_Mutation_p.N955S|TMEM2_uc011lsb.1_RNA	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2 isoform a	1018						integral to membrane				ovary(2)	2		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		CACCATAGGGTTGGACGGATA	0.463													23	46					0	0	0.005443	0	0
GDA	9615	broad.mit.edu	37	9	74856215	74856215	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:74856215G>A	uc004aiq.2	+	11	1318	c.1135_splice	c.e11+1	p.A379_splice	GDA_uc011lse.1_Splice_Site_p.A305_splice|GDA_uc011lsf.1_Splice_Site_p.A305_splice|GDA_uc004air.2_Splice_Site_p.A379_splice|GDA_uc010mow.1_Splice_Site|GDA_uc004ais.2_Splice_Site_p.A301_splice	NM_004293	NP_004284	Q9Y2T3	GUAD_HUMAN	guanine deaminase						nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		GGAAGCCAAGGTAATGACTCT	0.378													10	33					0	0	0.008291	0	0
TRPM6	140803	broad.mit.edu	37	9	77377950	77377950	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:77377950C>T	uc004ajl.1	-	26	3875	c.3637G>A	c.(3637-3639)GAT>AAT	p.D1213N	TRPM6_uc004ajk.1_Missense_Mutation_p.D1208N|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.D169N	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	1213	Cytoplasmic (Potential).				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						GCAGAGAGATCCTGCAGGTGT	0.468													25	60					0	0	0.006320	0	0
CEP78	84131	broad.mit.edu	37	9	80880377	80880377	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:80880377C>T	uc004akx.2	+	14	1991	c.1715C>T	c.(1714-1716)CCA>CTA	p.P572L	CEP78_uc004aky.3_Missense_Mutation_p.P573L|CEP78_uc010mpp.2_Missense_Mutation_p.P573L|CEP78_uc004akz.1_Missense_Mutation_p.P60L	NM_032171	NP_115547	Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa isoform b	572					G2/M transition of mitotic cell cycle	centrosome|cytosol				ovary(1)	1						GTTAGTAATCCACCTAAAGAA	0.438													7	7					0	0	0.001984	0	0
TLE4	7091	broad.mit.edu	37	9	82333708	82333708	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:82333708G>A	uc004ald.2	+	16	2336	c.1487G>A	c.(1486-1488)GGA>GAA	p.G496E	TLE4_uc004alc.2_Missense_Mutation_p.G471E|TLE4_uc010mpr.2_Missense_Mutation_p.G350E|TLE4_uc004ale.2_Missense_Mutation_p.G108E|TLE4_uc011lsq.1_Missense_Mutation_p.G439E|TLE4_uc010mps.2_Missense_Mutation_p.G395E|TLE4_uc004alf.2_Missense_Mutation_p.G410E	NM_007005	NP_008936	O60756	BCE1_HUMAN	transducin-like enhancer protein 4	Error:Variant_position_missing_in_O60756_after_alignment										lung(2)|ovary(1)|breast(1)|skin(1)	5						GCCCTCATCGGACCTGGAATC	0.572													20	44					0	0	0.001882	0	0
RASEF	158158	broad.mit.edu	37	9	85607821	85607821	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:85607821C>T	uc004amo.1	-	15	2301	c.2040G>A	c.(2038-2040)ATG>ATA	p.M680I		NM_152573	NP_689786	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	680					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			upper_aerodigestive_tract(1)|lung(1)|breast(1)	3						TCACTCTTACCATGGCCAGTT	0.473													39	120					0	0	0.003610	0	0
NTRK2	4915	broad.mit.edu	37	9	87339159	87339159	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:87339159G>A	uc004aoa.1	+	10	1679	c.741G>A	c.(739-741)CAG>CAA	p.Q247Q	NTRK2_uc004anv.1_Silent_p.Q247Q|NTRK2_uc004any.1_Silent_p.Q247Q|NTRK2_uc004anz.1_Silent_p.Q247Q|NTRK2_uc011lsz.1_Silent_p.Q247Q|NTRK2_uc011lta.1_Silent_p.Q247Q|NTRK2_uc004aob.1_Silent_p.Q247Q|NTRK2_uc011ltb.1_Silent_p.Q91Q	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	247	Extracellular (Potential).|Ig-like C2-type 1.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1)	16						GCCACACACAGGGCTCCTTAA	0.403										TSP Lung(25;0.17)			19	68					0	0	0.008871	0	0
ZCCHC6	79670	broad.mit.edu	37	9	88916314	88916315	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:88916314_88916315GG>AA	uc004aoq.2	-	26	4511_4512	c.4296_4297CC>TT	c.(4294-4299)ATCCTC>ATTTTC	p.L1433F	ZCCHC6_uc010mqe.2_Missense_Mutation_p.L333F|ZCCHC6_uc011ltf.1_RNA|ZCCHC6_uc004aor.2_RNA|ZCCHC6_uc004aos.2_RNA|ZCCHC6_uc004aot.2_Missense_Mutation_p.L1197F|ZCCHC6_uc004aou.2_Missense_Mutation_p.L1433F	NM_024617	NP_078893	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	1433					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)	2						GGTGGCCTGAGGATCTTCTCCC	0.46													13	27					0	0	0.004672	0	0
C9orf170	401535	broad.mit.edu	37	9	89763693	89763693	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:89763693C>T	uc004apa.1	+	1	135	c.48C>T	c.(46-48)CTC>CTT	p.L16L		NM_001001709	NP_001001709	A2RU37	CI170_HUMAN	hypothetical protein LOC401535	16											0						CCCTGCATCTCCTCCTGGGGG	0.726													8	15					0	0	0.003080	0	0
FAM75C1	441452	broad.mit.edu	37	9	90537218	90537218	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:90537218G>A	uc010mqi.2	+	4	2425	c.2396G>A	c.(2395-2397)AGG>AAG	p.R799K	FAM75C1_uc004apq.3_Missense_Mutation_p.R782K	NM_001145124	NP_001138596			family with sequence similarity 75, member C1												0						CAATCTTCAAGGGCTGGAGAG	0.582													15	50					0	0	0.008871	0	0
Unknown	0	broad.mit.edu	37	9	90747101	90747101	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:90747101G>A	uc011lti.1	-	4	880	c.851C>T	c.(850-852)TCT>TTT	p.S284F						SubName: Full=cDNA FLJ59639;																		GGAGAGGGCAGAAACTTGACT	0.552													18	45					0	0	0.004990	0	0
LOC286238	286238	broad.mit.edu	37	9	91262548	91262549	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:91262548_91262549CC>TT	uc010mql.1	-	2	227_228	c.94_95GG>AA	c.(94-96)GGA>AAA	p.G32K		NM_001100111	NP_001093581			hypothetical protein LOC286238												0						CACTGCTATTCCTTGCTGTCTT	0.421													32	38					0	0	0.004672	0	0
SEMA4D	10507	broad.mit.edu	37	9	92008487	92008487	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:92008487G>A	uc004aqo.1	-	9	1070	c.498C>T	c.(496-498)TCC>TCT	p.S166S	SEMA4D_uc011ltm.1_Silent_p.S166S|SEMA4D_uc011ltn.1_RNA|SEMA4D_uc011lto.1_RNA|SEMA4D_uc004aqp.1_Silent_p.S164S	NM_006378	NP_006369	Q92854	SEM4D_HUMAN	semaphorin 4D isoform 1	166	Sema.|Extracellular (Potential).				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			ovary(1)|pancreas(1)	2						CAACCATGACGGATGTGTAGC	0.423													21	48					0	0	0.002299	0	0
NOL8	55035	broad.mit.edu	37	9	95086441	95086441	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:95086441C>T	uc004arv.2	-	2	340	c.3G>A	c.(1-3)ATG>ATA	p.M1I	CENPP_uc004arz.2_5'Flank|CENPP_uc010mqx.2_5'Flank|NOL8_uc004arw.2_5'UTR|NOL8_uc011ltw.1_5'UTR|NOL8_uc004arx.2_Missense_Mutation_p.M1I|CENPP_uc004ary.1_5'Flank	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN	nucleolar protein 8	1					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			ovary(1)	1						TGTTCACTTTCATGAAGGCTG	0.408													42	155					0	0	0.003610	0	0
GABBR2	9568	broad.mit.edu	37	9	101258772	101258772	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:101258772G>A	uc004ays.2	-	4	811	c.655C>T	c.(655-657)CTG>TTG	p.L219L		NM_005458	NP_005449	O75899	GABR2_HUMAN	G protein-coupled receptor 51 precursor	219	Extracellular (Potential).				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(2)|skin(2)	4		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	TCGCCATACAGAACTCCAGTC	0.562													25	51					0	0	0.003330	0	0
GALNT12	79695	broad.mit.edu	37	9	101594134	101594134	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:101594134C>T	uc004ayz.2	+	4	812	c.812C>T	c.(811-813)TCC>TTC	p.S271F		NM_024642	NP_078918	Q8IXK2	GLT12_HUMAN	N-acetylgalactosaminyltransferase 12	271	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			upper_aerodigestive_tract(1)|ovary(1)	2		Acute lymphoblastic leukemia(62;0.0559)				CTGGGGAACTCCGGGGAGCCC	0.577													11	33					0	0	0.001368	0	0
ALG2	85365	broad.mit.edu	37	9	101981082	101981082	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:101981082G>A	uc004azf.2	-	2	455	c.385C>T	c.(385-387)CGG>TGG	p.R129W	ALG2_uc004azg.2_Missense_Mutation_p.R36W	NM_033087	NP_149078	Q9H553	ALG2_HUMAN	alpha-1,3-mannosyltransferase ALG2	129					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion	endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.0559)				TTCTTCCGCCGTCTAGCCAGC	0.448													18	63					0	0	0.007413	0	0
LPPR1	54886	broad.mit.edu	37	9	104048505	104048505	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:104048505C>T	uc004bbb.2	+	4	771	c.372C>T	c.(370-372)ATC>ATT	p.I124I	LPPR1_uc011lvi.1_Silent_p.I100I|LPPR1_uc004bbc.2_Silent_p.I124I|LPPR1_uc010mtc.2_Silent_p.I108I	NM_207299	NP_997182	Q8TBJ4	LPPR1_HUMAN	plasticity related gene 3	124						integral to membrane	catalytic activity				0						TTCGAAGGATCATAAGATTCA	0.373													22	30					0	0	0.001523	0	0
OR13C8	138802	broad.mit.edu	37	9	107332281	107332282	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:107332281_107332282CC>TT	uc011lvo.1	+	1	833_834	c.833_834CC>TT	c.(832-834)GCC>GTT	p.A278V		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C,	278	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						ATCATTGAGGCCCTCATCTCCC	0.421													27	53					0	0	0.004672	0	0
OR13C9	286362	broad.mit.edu	37	9	107379931	107379931	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:107379931C>T	uc011lvr.1	-	1	555	c.555G>A	c.(553-555)ATG>ATA	p.M185I		NM_001001956	NP_001001956	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C,	185	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						AGGCCAACTTCATGACAGCTA	0.408													24	46					0	0	0.002299	0	0
OR13D1	286365	broad.mit.edu	37	9	107457338	107457338	+	Silent	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:107457338A>G	uc011lvs.1	+	1	636	c.636A>G	c.(634-636)GAA>GAG	p.E212E		NM_001004484	NP_001004484	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D,	212	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						TTACCTGTGAAATTTTGGCCC	0.383													51	101					0	0	0.003610	0	0
ZNF462	58499	broad.mit.edu	37	9	109691436	109691436	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:109691436C>T	uc004bcz.2	+	3	5532	c.5243C>T	c.(5242-5244)CCG>CTG	p.P1748L	ZNF462_uc010mto.2_Missense_Mutation_p.P1596L|ZNF462_uc004bda.2_Missense_Mutation_p.P1596L	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	1748					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5						ATCCCATCCCCGCCCAAGGAC	0.567													10	16					0	0	0.006214	0	0
ACTL7B	10880	broad.mit.edu	37	9	111617555	111617555	+	Missense_Mutation	SNP	G	A	A	rs146541685		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:111617555G>A	uc004bdi.2	-	1	721	c.656C>T	c.(655-657)ACC>ATC	p.T219I		NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN	actin-like 7B	219						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			pancreas(1)	1						GGCGCGGCTGGTCAGGCCCGG	0.652													10	26					0	0	0.008291	0	0
IKBKAP	8518	broad.mit.edu	37	9	111665163	111665163	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:111665163G>A	uc004bdm.3	-	16	2330	c.1810C>T	c.(1810-1812)CCT>TCT	p.P604S	IKBKAP_uc004bdl.2_Missense_Mutation_p.P255S|IKBKAP_uc011lwc.1_Missense_Mutation_p.P490S|IKBKAP_uc010mtq.2_Missense_Mutation_p.P255S	NM_003640	NP_003631	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene	604					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						CATGGATAAGGAAACCGAACA	0.463													15	53					0	0	0.007413	0	0
SVEP1	79987	broad.mit.edu	37	9	113194893	113194893	+	Silent	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:113194893A>T	uc010mtz.2	-	31	5419	c.5082T>A	c.(5080-5082)CCT>CCA	p.P1694P		NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	1694	Sushi 6.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						TCTCCAAAGGAGGTGGCACCC	0.448													33	65					0	0	0.002222	0	0
KIAA0368	23392	broad.mit.edu	37	9	114206667	114206668	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:114206667_114206668GG>AA	uc004bfe.1	-	5	794_795	c.794_795CC>TT	c.(793-795)TCC>TTT	p.S265F	KIAA0368_uc010muc.1_Missense_Mutation_p.S87F	NM_001080398	NP_001073867			KIAA0368 protein												0						CTGTGACAAAGGAAACTGCAGC	0.386													24	28					0	0	0.004672	0	0
PRPF4	9128	broad.mit.edu	37	9	116045700	116045700	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:116045700C>A	uc004bgx.2	+	6	645	c.595C>A	c.(595-597)CAT>AAT	p.H199N	PRPF4_uc004bgy.2_Missense_Mutation_p.H198N	NM_004697	NP_004688	O43172	PRP4_HUMAN	PRP4 pre-mRNA processing factor 4 homolog	199						Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding			ovary(2)|pancreas(1)	3						GGCCCGACTCCATAAGGAGAT	0.512													20	60					9.57634e-11	1.24984e-10	0.003330	1	0
RGS3	5998	broad.mit.edu	37	9	116345827	116345827	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:116345827C>T	uc004bhq.2	+	21	2344	c.2135C>T	c.(2134-2136)CCT>CTT	p.P712L	RGS3_uc004bhs.2_Missense_Mutation_p.P602L|RGS3_uc004bht.2_Missense_Mutation_p.P431L|RGS3_uc010muy.2_Intron|RGS3_uc004bhv.2_Missense_Mutation_p.P33L|RGS3_uc010muz.1_Missense_Mutation_p.P51L|RGS3_uc004bhw.2_Intron|RGS3_uc011lxh.1_Missense_Mutation_p.P22L|RGS3_uc004bhx.2_Missense_Mutation_p.P33L|RGS3_uc004bhy.1_Missense_Mutation_p.P22L|RGS3_uc004bhz.2_Missense_Mutation_p.P54L	NM_144488	NP_652759	P49796	RGS3_HUMAN	regulator of G-protein signalling 3 isoform 6	712	Pro-rich.				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						GAGCCCTCTCCTGGCCAGGAG	0.607													19	34					0	0	0.008871	0	0
KIF12	113220	broad.mit.edu	37	9	116854257	116854257	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:116854257C>T	uc004bif.2	-	16	1664	c.1426G>A	c.(1426-1428)GCC>ACC	p.A476T	KIF12_uc004big.2_RNA	NM_138424	NP_612433	Q96FN5	KIF12_HUMAN	kinesin family member 12	609					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity				0						AGTCTCTGGGCCAGGTTTGGA	0.672													10	19					0	0	0.008291	0	0
KIF12	113220	broad.mit.edu	37	9	116856469	116856469	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:116856469C>T	uc004bif.2	-	10	1129	c.891G>A	c.(889-891)GAG>GAA	p.E297E	KIF12_uc004big.2_RNA	NM_138424	NP_612433	Q96FN5	KIF12_HUMAN	kinesin family member 12	430	Potential.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity				0						ACCTGAGCCTCTCATTCTCTA	0.642													12	46					0	0	0.000978	0	0
AKNA	80709	broad.mit.edu	37	9	117139684	117139684	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:117139684C>T	uc004biq.3	-	2	538	c.403G>A	c.(403-405)GAG>AAG	p.E135K	AKNA_uc004bio.3_5'Flank|AKNA_uc004bip.3_Missense_Mutation_p.E54K|AKNA_uc004bir.3_Missense_Mutation_p.E135K|AKNA_uc004bis.3_Missense_Mutation_p.E135K|AKNA_uc010mve.2_Missense_Mutation_p.E16K|AKNA_uc004biu.1_Intron|AKNA_uc004biv.1_Missense_Mutation_p.E135K|AKNA_uc004biw.1_Missense_Mutation_p.E135K	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(4)|central_nervous_system(2)	6						CCAGCCTCCTCAACCTCCAGA	0.607													16	22					0	0	0.004007	0	0
PAPPA	5069	broad.mit.edu	37	9	118974017	118974017	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:118974017G>A	uc004bjn.2	+	4	2105	c.1724G>A	c.(1723-1725)CGA>CAA	p.R575Q	PAPPA_uc011lxp.1_Intron|PAPPA_uc011lxq.1_Intron	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A	575	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(4)|pancreas(1)	9						CACGTCTTCCGAGGCATCTCA	0.547													28	37					0	0	0.006320	0	0
PAPPA	5069	broad.mit.edu	37	9	119065205	119065205	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:119065205C>T	uc004bjn.2	+	10	3504	c.3123C>T	c.(3121-3123)ATC>ATT	p.I1041I	PAPPA_uc011lxp.1_Silent_p.I736I|PAPPA_uc011lxq.1_Silent_p.I416I	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A	1041					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(4)|pancreas(1)	9						GCTGGGTCATCATCGGACAGC	0.532													17	33					0	0	0.008871	0	0
TLR4	7099	broad.mit.edu	37	9	120475362	120475362	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:120475362C>A	uc004bjz.2	+	3	1247	c.956C>A	c.(955-957)ACT>AAT	p.T319N	TLR4_uc004bka.2_Missense_Mutation_p.T279N|TLR4_uc004bkb.2_Missense_Mutation_p.T119N	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	319	Extracellular (Potential).				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			lung(10)|ovary(4)|breast(1)|skin(1)	16						GTGAGTGTGACTATTGAAAGG	0.318													38	48					9.45814e-24	1.24083e-23	0.004878	1	0
DAB2IP	153090	broad.mit.edu	37	9	124535734	124535735	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:124535734_124535735GG>AA	uc004bln.2	+	12	2912_2913	c.2843_2844GG>AA	c.(2842-2844)GGG>GAA	p.G948E	DAB2IP_uc004blo.2_Missense_Mutation_p.G852E|DAB2IP_uc004blp.2_Missense_Mutation_p.G381E	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	disabled homolog 2 interacting protein isoform	976					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			ovary(1)|central_nervous_system(1)	2						TCCTCCAAGGGGGACAGCCCAG	0.649													4	5					0	0	0.004672	0	0
PTGS1	5742	broad.mit.edu	37	9	125140808	125140808	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:125140808A>T	uc004bmg.1	+	4	443	c.308A>T	c.(307-309)AAT>ATT	p.N103I	PTGS1_uc011lys.1_Missense_Mutation_p.N78I|PTGS1_uc010mwb.1_5'UTR|PTGS1_uc004bmf.1_Missense_Mutation_p.N103I|PTGS1_uc004bmh.1_5'UTR|PTGS1_uc011lyt.1_5'UTR	NM_000962	NP_000953	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 isoform 1	103					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			ovary(1)|skin(1)	2					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	GAGTTTGTCAATGCCACCTTC	0.627													20	36					0	0	0.008871	0	0
PTGS1	5742	broad.mit.edu	37	9	125152536	125152536	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:125152536G>A	uc004bmg.1	+	10	1491	c.1356G>A	c.(1354-1356)AGG>AGA	p.R452R	PTGS1_uc011lys.1_Silent_p.R390R|PTGS1_uc010mwb.1_Silent_p.R306R|PTGS1_uc004bmf.1_Silent_p.R415R|PTGS1_uc004bmh.1_Silent_p.R343R|PTGS1_uc011lyt.1_Silent_p.R343R	NM_000962	NP_000953	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 isoform 1	452					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			ovary(1)|skin(1)	2					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	ATGTCATCAGGGAGTCTCGGG	0.592													19	32					0	0	0.002299	0	0
OR1J2	26740	broad.mit.edu	37	9	125273939	125273939	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:125273939C>T	uc004bmj.1	+	4	1714	c.859C>T	c.(859-861)CCC>TCC	p.P287S	OR1J2_uc011lyv.1_Missense_Mutation_p.P287S	NM_054107	NP_473448	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J,	287	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|pancreas(1)|breast(1)	5						CATGTTGAACCCCTTTATCTA	0.438													27	70					0	0	0.006320	0	0
ZBTB26	57684	broad.mit.edu	37	9	125682045	125682045	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:125682045A>G	uc004bnj.2	-	2	381	c.169T>C	c.(169-171)TTC>CTC	p.F57L	ZBTB26_uc004bnk.2_Missense_Mutation_p.F57L	NM_020924	NP_065975	Q9HCK0	ZBT26_HUMAN	zinc finger and BTB domain containing 26	57	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TCTCTTAAGAAGGGGGAACCT	0.368													17	24					0	0	0.007413	0	0
DENND1A	57706	broad.mit.edu	37	9	126439053	126439053	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:126439053G>A	uc004bnz.1	-	6	551	c.318C>T	c.(316-318)TTC>TTT	p.F106F	DENND1A_uc004bny.1_Intron|DENND1A_uc011lzm.1_Silent_p.F74F|DENND1A_uc004boa.1_Silent_p.F106F|DENND1A_uc004bob.1_Silent_p.F76F|DENND1A_uc004boc.2_Silent_p.F74F	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A isoform 1	106	DENN.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			ovary(2)	2						AAAATACCTCGAACCAGGGGA	0.333													24	42					0	0	0.002096	0	0
GOLGA1	2800	broad.mit.edu	37	9	127651725	127651725	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:127651725G>A	uc004bpc.2	-	17	1930	c.1588C>T	c.(1588-1590)CAG>TAG	p.Q530*	GOLGA1_uc010mws.2_RNA	NM_002077	NP_002068	Q92805	GOGA1_HUMAN	golgin 97	530	Potential.|Gln-rich.					Golgi cisterna membrane				ovary(1)	1						CGCTCCAGCTGGAGAATCTCC	0.552													38	103					0	0	0.007835	0	0
RALGPS1	9649	broad.mit.edu	37	9	129974488	129974488	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:129974488C>T	uc004bqo.1	+	15	1593	c.1326C>T	c.(1324-1326)ACC>ACT	p.T442T	RALGPS1_uc011mac.1_Silent_p.T400T|RALGPS1_uc004bqq.3_Silent_p.T400T	NM_014636	NP_055451	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	442	Required for stimulation of nucleotide exchange by RALA.|PH.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			ovary(1)	1						GAAGAAAAACCCTGCTCAAGG	0.602													5	20					0	0	0.001984	0	0
FAM129B	64855	broad.mit.edu	37	9	130279140	130279140	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:130279140G>A	uc004brh.2	-	8	1171	c.969C>T	c.(967-969)ATC>ATT	p.I323I	FAM129B_uc004bri.2_Silent_p.I310I|FAM129B_uc004brj.3_Silent_p.I323I	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN	hypothetical protein LOC64855 isoform 1	323							protein binding				0						GCCTACCTCGGATCTTGCTGG	0.547													91	275					0	0	0.003610	0	0
PIP5KL1	138429	broad.mit.edu	37	9	130688150	130688150	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:130688150G>A	uc011mao.1	-	8	804	c.759C>T	c.(757-759)AAC>AAT	p.N253N	PIP5KL1_uc004bsu.2_Silent_p.N50N	NM_001135219	NP_001128691	Q5T9C9	PI5L1_HUMAN	phosphatidylinositol-4-phosphate 5-kinase-like 1	253	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			lung(1)|kidney(1)	2						GCTCACCCAGGTTGATGGTCT	0.577													16	36					0	0	0.004990	0	0
DNM1	1759	broad.mit.edu	37	9	130985128	130985128	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:130985128C>T	uc011mau.1	+	9	1272	c.1185C>T	c.(1183-1185)ATC>ATT	p.I395I	DNM1_uc010mxr.2_Silent_p.I395I|DNM1_uc011mat.1_Silent_p.I395I	NM_004408	NP_004399	Q05193	DYN1_HUMAN	dynamin 1 isoform 1	395					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			ovary(2)	2						TCAAGAATATCCATGGCATTA	0.542													30	53					0	0	0.002836	0	0
PRDM12	59335	broad.mit.edu	37	9	133556642	133556642	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:133556642C>T	uc004bzt.1	+	5	750	c.690C>T	c.(688-690)TTC>TTT	p.F230F		NM_021619	NP_067632	Q9H4Q4	PRD12_HUMAN	PR domain containing 12	230					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		CAGAGGACTTCCACCCGGCGG	0.642													5	11					0	0	0.001168	0	0
FIBCD1	84929	broad.mit.edu	37	9	133799745	133799745	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:133799745C>T	uc004bzz.2	-	3	836	c.591G>A	c.(589-591)GTG>GTA	p.V197V	FIBCD1_uc011mcc.1_Silent_p.V197V	NM_032843	NP_116232	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	197	Extracellular (Potential).				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding				0	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		TGACGGAGTTCACCAGGTGAG	0.701													12	20					0	0	0.001368	0	0
LAMC3	10319	broad.mit.edu	37	9	133911687	133911688	+	Missense_Mutation	DNP	GG	AA	AA	rs45444592		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:133911687_133911688GG>AA	uc004caa.1	+	4	1042_1043	c.944_945GG>AA	c.(943-945)CGG>CAA	p.R315Q		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	315	Laminin EGF-like 1.				cell adhesion	basement membrane|membrane	structural molecule activity			ovary(2)|pancreas(1)	3	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CCGTGGGCCCGGGGCACCGCCG	0.688													9	26					0	0	0.004672	0	0
NUP214	8021	broad.mit.edu	37	9	134025795	134025795	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:134025795G>A	uc004cag.2	+	15	2236	c.2125G>A	c.(2125-2127)GAG>AAG	p.E709K	NUP214_uc004cah.2_Missense_Mutation_p.E699K|NUP214_uc004cai.2_Missense_Mutation_p.E139K|NUP214_uc004caf.1_Missense_Mutation_p.E698K|NUP214_uc010mzf.2_Missense_Mutation_p.E7K	NM_005085	NP_005076	P35658	NU214_HUMAN	nucleoporin 214kDa	709	11 X 5 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1)	16	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		AATTGGGGAGGAGGTAAATTT	0.458			T	DEK|SET|ABL1	AML|T-ALL								16	46					0	0	0.001523	0	0
C9orf171	389799	broad.mit.edu	37	9	135374806	135374806	+	Missense_Mutation	SNP	G	A	A	rs145957603		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:135374806G>A	uc004cbn.2	+	4	499	c.451G>A	c.(451-453)GAG>AAG	p.E151K	C9orf171_uc004cbo.2_Missense_Mutation_p.E115K	NM_207417	NP_997300	Q6ZQR2	CI171_HUMAN	hypothetical protein LOC389799	151										ovary(4)|large_intestine(1)	5						CTGCCCCCACGAGCTGACCCG	0.632													16	36					0	0	0.003163	0	0
TSC1	7248	broad.mit.edu	37	9	135779089	135779089	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:135779089G>A	uc004cca.2	-	17	2391	c.2157C>T	c.(2155-2157)CTC>CTT	p.L719L	TSC1_uc004ccb.3_Silent_p.L718L|TSC1_uc011mcq.1_Silent_p.L668L|TSC1_uc011mcr.1_Intron	NM_000368	NP_000359	Q92574	TSC1_HUMAN	tuberous sclerosis 1 protein isoform 1	719					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1)	14				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		CCTTGCGGAGGAGCCGCCTGT	0.532			D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis				19	52					0	0	0.007413	0	0
CEL	1056	broad.mit.edu	37	9	135946607	135946607	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:135946607C>T	uc010naa.1	+	11	1743	c.1727C>T	c.(1726-1728)CCC>CTC	p.P576L		NM_001807	NP_001798	P19835	CEL_HUMAN	carboxyl ester lipase precursor	573	2.|17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			pancreas(1)	1				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		CCCGTGCCCCCCACGGGTGAC	0.771													17	59					0	0	0.007413	0	0
DBH	1621	broad.mit.edu	37	9	136507353	136507353	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:136507353G>A	uc004cel.2	+	3	520	c.511G>A	c.(511-513)GGG>AGG	p.G171R		NM_000787	NP_000778	P09172	DOPO_HUMAN	dopamine beta hydroxylase precursor	171	DOMON.|Intragranular (Potential).				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	CTTGGTCTACGGGATCCTGGA	0.642													8	23					0	0	0.006214	0	0
COL5A1	1289	broad.mit.edu	37	9	137660267	137660267	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:137660267G>A	uc004cfe.2	+	25	2626	c.2244G>A	c.(2242-2244)GGG>GGA	p.G748G		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	748	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GTCCCTTGGGGAAACCAGGCC	0.592													21	79					0	0	0.002780	0	0
COL5A1	1289	broad.mit.edu	37	9	137717665	137717665	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:137717665G>A	uc004cfe.2	+	63	5364	c.4982G>A	c.(4981-4983)GGA>GAA	p.G1661E	uc004cff.2_Intron	NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	1661	Fibrillar collagen NC1.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCTAACCAAGGATGCTCCAGG	0.562													20	35					0	0	0.003330	0	0
LCN1	3933	broad.mit.edu	37	9	138416719	138416719	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:138416719G>A	uc004cfz.1	+	5	505	c.447G>A	c.(445-447)GAG>GAA	p.E149E	LCN1_uc004cga.1_Silent_p.E149E	NM_002297	NP_002288	P31025	LCN1_HUMAN	lipocalin 1 precursor	149					proteolysis|response to stimulus|sensory perception of taste	extracellular region	cysteine-type endopeptidase inhibitor activity|transporter activity				0		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)		AGGACTTTGAGAAAGCCGCAG	0.662													3	9					0	0	0.004672	0	0
SOHLH1	402381	broad.mit.edu	37	9	138589364	138589364	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:138589364G>A	uc004cgl.2	-	4	516	c.455C>T	c.(454-456)TCC>TTC	p.S152F	SOHLH1_uc010nbe.2_Missense_Mutation_p.S152F	NM_001012415	NP_001012415	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic	152					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)	2		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		AGTCCCGCTGGACGCTCCCGT	0.617													10	25					0	0	0.008291	0	0
KCNT1	57582	broad.mit.edu	37	9	138662853	138662853	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:138662853G>A	uc011mdq.1	+	18	1994	c.1920G>A	c.(1918-1920)GAG>GAA	p.E640E	KCNT1_uc011mdr.1_Silent_p.E467E|KCNT1_uc010nbf.2_Silent_p.E595E|KCNT1_uc004cgo.1_Silent_p.E389E	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	640						membrane	binding|calcium-activated potassium channel activity			large_intestine(2)|ovary(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		TCAAGCAGGAGGAGAAGCGGA	0.647													7	21					0	0	0.001984	0	0
MAMDC4	158056	broad.mit.edu	37	9	139751484	139751484	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:139751484C>T	uc004cjs.2	+	16	2013	c.1963C>T	c.(1963-1965)CCC>TCC	p.P655S	MAMDC4_uc011mej.1_5'UTR	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN	apical early endosomal glycoprotein precursor	734	MAM 4.|Extracellular (Potential).				protein transport	integral to membrane				breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1)	7	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CCTCCATGGGCCCCAGATTGG	0.667													8	27					0	0	0.003080	0	0
ABCA2	20	broad.mit.edu	37	9	139917473	139917473	+	Silent	SNP	G	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:139917473G>C	uc011mem.1	-	3	340	c.192C>G	c.(190-192)GCC>GCG	p.A64A	ABCA2_uc011mel.1_Silent_p.A65A|ABCA2_uc004ckl.1_5'UTR|ABCA2_uc004ckm.1_Silent_p.A95A|ABCA2_uc004cko.1_5'UTR|ABCA2_uc010nca.2_5'UTR	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A, member 2	64	Helical; (Potential).				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)		GCAGGATGCCGGCAGACGTCA	0.483													3	6					0	0	0.004672	0	0
P2RY8	286530	broad.mit.edu	37	X	1584669	1584669	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:1584669G>A	uc004cpz.2	-	2	1031	c.783C>T	c.(781-783)ATC>ATT	p.I261I		NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	G-protein coupled purinergic receptor P2Y8	261	Extracellular (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)				GGCGGCTCACGATGTGCGCCA	0.612			T	CRLF2	B-ALL|Downs associated ALL								9	46					0	0	0.006214	0	0
MXRA5	25878	broad.mit.edu	37	X	3240713	3240713	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:3240713G>A	uc004crg.3	-	5	3170	c.3013C>T	c.(3013-3015)CCC>TCC	p.P1005S		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	1005						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CAGATGGTGGGGGTTGGAGTA	0.463													43	30					0	0	0.003610	0	0
MXRA5	25878	broad.mit.edu	37	X	3241150	3241150	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:3241150G>A	uc004crg.3	-	5	2733	c.2576C>T	c.(2575-2577)TCC>TTC	p.S859F		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	859						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GCTGGCTGAGGAAATGGTACC	0.488													26	17					0	0	0.003330	0	0
MXRA5	25878	broad.mit.edu	37	X	3241234	3241234	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:3241234G>A	uc004crg.3	-	5	2649	c.2492C>T	c.(2491-2493)CCT>CTT	p.P831L		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	831						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGTCTGCACAGGAGATGCTGA	0.498													23	15					0	0	0.003330	0	0
STS	412	broad.mit.edu	37	X	7267936	7267936	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:7267936C>T	uc004cry.3	+	10	1631	c.1386C>T	c.(1384-1386)TCC>TCT	p.S462S		NM_000351	NP_000342	P08842	STS_HUMAN	steryl-sulfatase precursor	462	Lumenal.				female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			central_nervous_system(1)	1		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	CAGGCACATCCATCTGGAAGG	0.473									Ichthyosis				42	33					0	0	0.003610	0	0
FAM9B	171483	broad.mit.edu	37	X	8995992	8995992	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:8995992G>A	uc011mhu.1	-	6	498	c.409C>T	c.(409-411)CAA>TAA	p.Q137*	FAM9B_uc011mhv.1_RNA|FAM9B_uc004csh.2_Nonsense_Mutation_p.Q177*	NM_205849	NP_995321	Q8IZU0	FAM9B_HUMAN	family with sequence similarity 9, member B	137						nucleus					0		Hepatocellular(5;0.219)				TTCTTCTGTTGTTCTTGAAAT	0.328													29	26					0	0	0.006320	0	0
SHROOM2	357	broad.mit.edu	37	X	9863835	9863835	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:9863835C>T	uc004csu.1	+	4	1977	c.1887C>T	c.(1885-1887)ACC>ACT	p.T629T		NM_001649	NP_001640	Q13796	SHRM2_HUMAN	apical protein of Xenopus-like	629					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8		Hepatocellular(5;0.000888)				TTGCCACCACCCTGCGGAATG	0.662													7	6					0	0	0.001984	0	0
CLCN4	1183	broad.mit.edu	37	X	10176170	10176170	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:10176170C>T	uc004csy.3	+	9	1359	c.929C>T	c.(928-930)CCC>CTC	p.P310L	CLCN4_uc011mid.1_Missense_Mutation_p.P216L	NM_001830	NP_001821	P51793	CLCN4_HUMAN	chloride channel 4	310						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						TCCATCAATCCCTTTGGGAAT	0.517													80	46					0	0	0.003610	0	0
ATXN3L	92552	broad.mit.edu	37	X	13337192	13337192	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:13337192C>T	uc010ned.2	-	1	1327	c.862G>A	c.(862-864)GAA>AAA	p.E288K		NM_001135995	NP_001129467	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	288					protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity			lung(2)|ovary(2)|large_intestine(1)|skin(1)	6						TGATGCTTTTCAAAATAGTCT	0.448													73	36					0	0	0.003610	0	0
OFD1	8481	broad.mit.edu	37	X	13764499	13764499	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:13764499C>T	uc004cvp.3	+	7	938	c.579C>T	c.(577-579)TTC>TTT	p.F193F	OFD1_uc004cvr.3_5'UTR|OFD1_uc011mil.1_5'UTR|OFD1_uc004cvq.3_Silent_p.F53F|OFD1_uc010nen.2_Silent_p.F192F|OFD1_uc004cvs.3_RNA|OFD1_uc004cvu.3_Silent_p.F192F|OFD1_uc004cvv.3_Silent_p.F192F|OFD1_uc010neo.1_5'UTR	NM_003611	NP_003602	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	193	Potential.				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding				0						GTATCAAGTTCGAATCTTTAG	0.338													38	12					0	0	0.004289	0	0
GLRA2	2742	broad.mit.edu	37	X	14748587	14748587	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:14748587G>A	uc010nep.2	+	10	1671	c.1339G>A	c.(1339-1341)GAA>AAA	p.E447K	GLRA2_uc010neq.2_Missense_Mutation_p.E447K|GLRA2_uc004cwe.3_Missense_Mutation_p.E447K|GLRA2_uc011mio.1_Missense_Mutation_p.E358K|GLRA2_uc011mip.1_Missense_Mutation_p.E425K	NM_001118885	NP_001112357	P23416	GLRA2_HUMAN	glycine receptor, alpha 2 isoform A	447					neuropeptide signaling pathway	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(1)|lung(1)	2	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	CATTCGGCATGAAGATGTCCA	0.433													49	28					0	0	0.003610	0	0
ASB11	140456	broad.mit.edu	37	X	15311435	15311436	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:15311435_15311436CC>TT	uc004cwp.1	-	4	376_377	c.376_377GG>AA	c.(376-378)GGA>AAA	p.G126K	ASB11_uc004cwo.1_Missense_Mutation_p.G105K|ASB11_uc010nes.1_RNA|ASB11_uc010net.1_Missense_Mutation_p.G109K	NM_080873	NP_543149	Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box-containing protein	126	ANK 2.				intracellular signal transduction					breast(2)|skin(1)	3	Hepatocellular(33;0.183)					AACTGTCACTCCATTGACCTAA	0.495													46	19					0	0	0.004672	0	0
NHS	4810	broad.mit.edu	37	X	17744107	17744107	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:17744107C>T	uc004cxx.2	+	6	2156	c.1818C>T	c.(1816-1818)CAC>CAT	p.H606H	NHS_uc011mix.1_Silent_p.H627H|NHS_uc004cxy.2_Silent_p.H450H|NHS_uc004cxz.2_Silent_p.H429H|NHS_uc004cya.2_Silent_p.H329H	NM_198270	NP_938011	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome protein isoform 1	606						nucleus				skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	Hepatocellular(33;0.183)					AAGATGACCACCAGTCATCCA	0.587													26	14					0	0	0.003330	0	0
SCML2	10389	broad.mit.edu	37	X	18283762	18283762	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:18283762C>T	uc004cyl.2	-	8	1048	c.891G>A	c.(889-891)AGG>AGA	p.R297R	SCML2_uc004cyk.3_RNA|SCML2_uc010nfd.1_Silent_p.R297R|SCML2_uc011miz.1_Silent_p.R231R|SCML2_uc010nfc.2_Silent_p.R33R	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2	297					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity				0	Hepatocellular(33;0.183)					CAGAACTGCTCCTTTTGGGGA	0.388													49	35					0	0	0.003610	0	0
MAGEB18	286514	broad.mit.edu	37	X	26157665	26157665	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:26157665C>T	uc004dbq.1	+	2	750	c.563C>T	c.(562-564)ACC>ATC	p.T188I		NM_173699	NP_775970	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	188	MAGE.						protein binding			central_nervous_system(1)	1						GATGAAACAACCAGTGATGAA	0.473													6	4					0	0	0.003080	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212270	26212270	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:26212270C>T	uc004dbr.2	+	2	456	c.307C>T	c.(307-309)CCT>TCT	p.P103S	MAGEB6_uc010ngc.1_Intron	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	103	Ser-rich.									ovary(3)	3						TGCCTCCGTTCCTCAGGAGTC	0.522													39	15					0	0	0.002222	0	0
FAM47A	158724	broad.mit.edu	37	X	34149328	34149328	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:34149328C>T	uc004ddg.2	-	1	1101	c.1068G>A	c.(1066-1068)GAG>GAA	p.E356E		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	356										ovary(4)|central_nervous_system(1)	5						ACACTCCAGTCTCGGAAGGCT	0.662													13	3					0	0	0.001855	0	0
FAM47A	158724	broad.mit.edu	37	X	34149421	34149421	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:34149421G>A	uc004ddg.2	-	1	1008	c.975C>T	c.(973-975)CTC>CTT	p.L325L		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	325										ovary(4)|central_nervous_system(1)	5						GCTCCGGGCGGAGACTGGACA	0.617													5	1					0	0	0.000602	0	0
FAM47A	158724	broad.mit.edu	37	X	34149560	34149560	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:34149560G>A	uc004ddg.2	-	1	869	c.836C>T	c.(835-837)CCT>CTT	p.P279L		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	279										ovary(4)|central_nervous_system(1)	5						GCCCTCACAAGGAGCCCGTGC	0.572													6	1					0	0	0.001168	0	0
FAM47C	442444	broad.mit.edu	37	X	37026872	37026872	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:37026872C>T	uc004ddl.1	+	1	403	c.389C>T	c.(388-390)CCC>CTC	p.P130L		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	130										ovary(3)	3						ACCAAGCATCCCTTGGCCATG	0.572													26	13					0	0	0.001786	0	0
FAM47C	442444	broad.mit.edu	37	X	37026888	37026888	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:37026888C>T	uc004ddl.1	+	1	419	c.405C>T	c.(403-405)CCC>CCT	p.P135P		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	135										ovary(3)	3						CCATGTACCCCAATCTGGGAG	0.577													25	11					0	0	0.005443	0	0
TSPAN7	7102	broad.mit.edu	37	X	38525469	38525469	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:38525469C>T	uc004deg.3	+	2	245	c.176C>T	c.(175-177)CCC>CTC	p.P59L	TSPAN7_uc011mkj.1_Missense_Mutation_p.P85L|TSPAN7_uc011mkk.1_Missense_Mutation_p.P76L|TSPAN7_uc004deh.2_5'UTR	NM_004615	NP_004606	P41732	TSN7_HUMAN	tetraspanin 7	59	Helical; (Potential).				interspecies interaction between organisms	integral to plasma membrane				ovary(1)	1						ACAAATGCTCCCTATGTGCTC	0.502													33	13					0	0	0.002836	0	0
SYN1	6853	broad.mit.edu	37	X	47432303	47432303	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:47432303C>G	uc004die.2	-	13	2207	c.2078G>C	c.(2077-2079)CGC>CCC	p.R693P	SYN1_uc004did.2_3'UTR	NM_006950	NP_008881	P17600	SYN1_HUMAN	synapsin I isoform Ia	693	E.					cell junction|Golgi apparatus	actin binding|ATP binding|ligase activity|transporter activity			ovary(1)	1						CCTCAGGCTGCGGATGGTCTC	0.572													37	22					0	0	0.002222	0	0
SMC1A	8243	broad.mit.edu	37	X	53440018	53440018	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:53440018T>G	uc004dsg.2	-	5	755	c.686A>C	c.(685-687)TAC>TCC	p.Y229S	SMC1A_uc011moe.1_Missense_Mutation_p.Y207S|SMC1A_uc011mof.1_Intron|SMC1A_uc004dsi.1_Missense_Mutation_p.Y95S	NM_006306	NP_006297	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	229	Potential.				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			ovary(5)|central_nervous_system(1)	6						TTCATTATGGTAAAGCTTAAA	0.383													11	10					0	0	0.008291	0	0
FAAH2	158584	broad.mit.edu	37	X	57458368	57458368	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:57458368A>C	uc004dvc.2	+	8	1163	c.1014A>C	c.(1012-1014)GAA>GAC	p.E338D		NM_174912	NP_777572	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	338						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			ovary(3)	3						TTCACCTTGAAACTATTCTAG	0.328										HNSCC(52;0.14)			17	14					0	0	0.004007	0	0
ARHGEF9	23229	broad.mit.edu	37	X	62917014	62917014	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:62917014G>A	uc004dvl.2	-	4	1391	c.552C>T	c.(550-552)TTC>TTT	p.F184F	ARHGEF9_uc004dvj.1_Silent_p.F73F|ARHGEF9_uc004dvk.1_Silent_p.F46F|ARHGEF9_uc011mos.1_Silent_p.F163F|ARHGEF9_uc004dvm.1_Silent_p.F163F|ARHGEF9_uc011mot.1_Silent_p.F131F|ARHGEF9_uc004dvn.2_Silent_p.F191F	NM_015185	NP_056000	O43307	ARHG9_HUMAN	Cdc42 guanine exchange factor 9	184	DH.				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity			ovary(5)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	8						CGTGCTCTAGGAAGCAGGGTC	0.458													10	2					0	0	0.008291	0	0
HEPH	9843	broad.mit.edu	37	X	65479985	65479985	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:65479985G>A	uc011moz.1	+	19	3149	c.3089G>A	c.(3088-3090)GGG>GAG	p.G1030E	HEPH_uc004dwn.2_Missense_Mutation_p.G1030E|HEPH_uc004dwo.2_Missense_Mutation_p.G760E|HEPH_uc010nkr.2_Missense_Mutation_p.G838E|HEPH_uc011mpa.1_Missense_Mutation_p.G1030E	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN	hephaestin isoform a	1027	Extracellular (Potential).|Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			lung(5)|ovary(4)	9						CTGTTCCCAGGGACTTTTGAG	0.522													22	10					0	0	0.002780	0	0
AWAT1	158833	broad.mit.edu	37	X	69459607	69459607	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:69459607A>C	uc004dxy.2	+	6	696	c.655A>C	c.(655-657)ACT>CCT	p.T219P		NM_001013579	NP_001013597	Q58HT5	AWAT1_HUMAN	wax synthase 1	219					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			ovary(3)	3						CCCCACCTTCACTTTTGGGGA	0.463													32	15					0	0	0.004289	0	0
FOXO4	4303	broad.mit.edu	37	X	70321417	70321417	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:70321417C>T	uc004dys.1	+	2	1690	c.1337C>T	c.(1336-1338)CCC>CTC	p.P446L	FOXO4_uc010nkz.2_Intron|FOXO4_uc004dyt.1_Missense_Mutation_p.P391L	NM_005938	NP_005929	P98177	FOXO4_HUMAN	forkhead box O4	446					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)					GCCCCCATCCCCAAGGCTCTG	0.567													25	7					0	0	0.002780	0	0
TSIX	9383	broad.mit.edu	37	X	73042686	73042686	+	RNA	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:73042686C>T	uc004ebn.2	+	1		c.30647C>T			XIST_uc004ebm.1_RNA	NR_003255				Homo sapiens XIST antisense RNA (non-protein coding) (TSIX), non-coding RNA.												0						TTTAGTTTTTCCTTAGTATCG	0.348													39	13					0	0	0.006999	0	0
GPR174	84636	broad.mit.edu	37	X	78427255	78427255	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:78427255C>T	uc004edg.1	+	1	787	c.751C>T	c.(751-753)CCT>TCT	p.P251S		NM_032553	NP_115942	Q9BXC1	GP174_HUMAN	putative purinergic receptor FKSG79	251	Helical; Name=6; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			lung(1)|central_nervous_system(1)	2						TTTCAGTTTTCCTTTAGATTT	0.403										HNSCC(63;0.18)			17	18					0	0	0.004990	0	0
TBX22	50945	broad.mit.edu	37	X	79286391	79286392	+	Missense_Mutation	DNP	GT	CC	CC			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:79286391_79286392GT>CC	uc010nmg.1	+	9	1478_1479	c.1344_1345GT>CC	c.(1342-1347)CAGTCA>CACCCA	p.448_449QS>HP	TBX22_uc004edi.1_Missense_Mutation_p.328_329QS>HP|TBX22_uc004edj.1_Missense_Mutation_p.448_449QS>HP	NM_001109878	NP_001103348	Q9Y458	TBX22_HUMAN	T-box 22 isoform 1	448_449					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1)	15						ATGGATTACAGTCACCTGGAAA	0.406													29	26					0	0	0.004672	0	0
POF1B	79983	broad.mit.edu	37	X	84560879	84560879	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:84560879T>C	uc004eer.2	-	13	1501	c.1355A>G	c.(1354-1356)AAA>AGA	p.K452R	POF1B_uc004ees.2_Missense_Mutation_p.K452R	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	452							actin binding				0						CTCATCCATTTTAGCCTGCAA	0.388													24	22					0	0	0.003330	0	0
POF1B	79983	broad.mit.edu	37	X	84634333	84634333	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:84634333G>A	uc004eer.2	-	2	273	c.127C>T	c.(127-129)CCA>TCA	p.P43S	POF1B_uc004ees.2_Missense_Mutation_p.P43S	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	43							actin binding				0						TTTTTTTCTGGAGGCTGCTGG	0.577													7	2					0	0	0.003080	0	0
PABPC5	140886	broad.mit.edu	37	X	90691122	90691123	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:90691122_90691123CC>TT	uc004efg.2	+	2	986_987	c.546_547CC>TT	c.(544-549)TTCCCA>TTTTCA	p.P183S	PABPC5_uc004eff.1_Missense_Mutation_p.P19S	NM_080832	NP_543022	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	183						cytoplasm	nucleotide binding|RNA binding			ovary(1)|lung(1)|pancreas(1)	3						GATTCAAATTCCCAGAAGAGCG	0.485													7	11					0	0	0.004672	0	0
ARMCX1	51309	broad.mit.edu	37	X	100808124	100808124	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:100808124C>T	uc004ehv.2	+	4	582	c.211C>T	c.(211-213)CAG>TAG	p.Q71*	ARMCX1_uc004ehw.2_Nonsense_Mutation_p.Q71*	NM_016608	NP_057692	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	71						integral to membrane	binding			ovary(3)|pancreas(1)	4						GGCCAAACTTCAGGGTGATTC	0.557													12	6					0	0	0.001368	0	0
TCEAL6	158931	broad.mit.edu	37	X	101396221	101396221	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:101396221C>T	uc004eiq.2	-	3	244	c.83G>A	c.(82-84)GGA>GAA	p.G28E		NM_001006938	NP_001006939	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	28	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1						gtctgactttccttcatcatc	0.119													6	3					0	0	0.001168	0	0
MUM1L1	139221	broad.mit.edu	37	X	105450534	105450534	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:105450534A>T	uc004emf.1	+	4	1758	c.1109A>T	c.(1108-1110)GAT>GTT	p.D370V	MUM1L1_uc004emg.1_Missense_Mutation_p.D370V	NM_152423	NP_689636	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	370										ovary(2)|pancreas(1)|skin(1)	4						TCTCTATTAGATGATGATGAG	0.363													11	4					0	0	0.000978	0	0
DCX	1641	broad.mit.edu	37	X	110654098	110654098	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:110654098T>A	uc004epd.2	-	1	277	c.105A>T	c.(103-105)GAA>GAT	p.E35D	DCX_uc011msv.1_Missense_Mutation_p.E35D|DCX_uc004epe.2_Intron|DCX_uc004epf.2_Intron|DCX_uc004epg.2_Intron	NM_000555	NP_000546	O43602	DCX_HUMAN	doublecortin isoform a	35					axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			central_nervous_system(2)|lung(1)|skin(1)	4						CCTGACAAAATTCCCCTTGAA	0.423													65	41					0	0	0.003610	0	0
AMOT	154796	broad.mit.edu	37	X	112048297	112048297	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:112048297C>T	uc004epr.2	-	5	1654	c.1654G>A	c.(1654-1656)GAG>AAG	p.E552K	AMOT_uc004eps.2_Missense_Mutation_p.E143K	NM_001113490	NP_001106962	Q4VCS5	AMOT_HUMAN	angiomotin isoform 1	552	Potential.				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction|tight junction	angiostatin binding|protein binding|receptor activity			ovary(1)	1						TCCAGCTTCTCCTTCTCACGC	0.507													66	38					0	0	0.003610	0	0
PLS3	5358	broad.mit.edu	37	X	114869286	114869286	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:114869286C>T	uc004eqd.2	+	7	1066	c.676C>T	c.(676-678)CTG>TTG	p.L226L	PLS3_uc010nqg.2_Intron|PLS3_uc011mtf.1_Silent_p.L204L|PLS3_uc004eqe.2_Silent_p.L226L|PLS3_uc011mtg.1_Silent_p.L199L|PLS3_uc011mth.1_Silent_p.L181L	NM_005032	NP_005023	P13797	PLST_HUMAN	plastin 3	226	Actin-binding 1.|CH 1.					cytoplasm	actin binding|calcium ion binding			lung(1)|breast(1)	2						GAAACCTCATCTGGTTTTGGG	0.448													66	32					0	0	0.003610	0	0
SLC6A14	11254	broad.mit.edu	37	X	115586147	115586147	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:115586147G>A	uc004eqi.2	+	11	1513	c.1409G>A	c.(1408-1410)GGA>GAA	p.G470E		NM_007231	NP_009162	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid	470	Helical; Name=9; (Potential).				cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			ovary(2)|pancreas(1)	3					L-Proline(DB00172)	TGGTAGGCTGGAATTTACTGG	0.318													33	38					0	0	0.004878	0	0
THOC2	57187	broad.mit.edu	37	X	122756988	122756988	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:122756988G>A	uc004etu.2	-	29	3682	c.3650C>T	c.(3649-3651)TCT>TTT	p.S1217F	THOC2_uc010nqt.1_5'Flank|THOC2_uc004etw.1_Missense_Mutation_p.S38F	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	THO complex 2	1217					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			ovary(3)	3						ATCCGATTTAGATGCACTTCC	0.398													36	20					0	0	0.003271	0	0
ODZ1	10178	broad.mit.edu	37	X	123654409	123654409	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:123654409C>T	uc004euj.2	-	18	3323	c.3259G>A	c.(3259-3261)GAC>AAC	p.D1087N	ODZ1_uc011muj.1_Missense_Mutation_p.D1086N|ODZ1_uc010nqy.2_Missense_Mutation_p.D1087N	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	1087	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						CCATAGATGTCGGTCTTGTTC	0.433													46	16					0	0	0.003610	0	0
IGSF1	3547	broad.mit.edu	37	X	130409619	130409619	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:130409619C>T	uc004ewd.2	-	16	3255	c.3017G>A	c.(3016-3018)GGA>GAA	p.G1006E	IGSF1_uc004ewe.3_Missense_Mutation_p.G1000E|IGSF1_uc004ewf.2_Missense_Mutation_p.G986E	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1 isoform 1	1006	Extracellular (Potential).|Ig-like C2-type 10.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	p.G1006G(1)		ovary(3)|lung(1)|central_nervous_system(1)	5						AGTGGCTTCTCCTTCTTTGTG	0.532													23	21					0	0	0.001882	0	0
OR13H1	347468	broad.mit.edu	37	X	130678879	130678879	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:130678879G>A	uc011muw.1	+	1	832	c.832G>A	c.(832-834)GGA>AGA	p.G278R	IGSF1_uc004ewf.2_Intron	NM_001004486	NP_001004486	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H,	278	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Acute lymphoblastic leukemia(192;0.000636)					AGTGTTTTATGGAGCTTTGAC	0.423													38	22					0	0	0.004289	0	0
GPR112	139378	broad.mit.edu	37	X	135453592	135453592	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:135453592C>T	uc004ezu.1	+	14	7793	c.7502C>T	c.(7501-7503)TCA>TTA	p.S2501L	GPR112_uc010nsb.1_Missense_Mutation_p.S2296L	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	2501	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)					TCAGATATTTCACAATGTGAT	0.338													27	11					0	0	0.004656	0	0
SPANXE	171489	broad.mit.edu	37	X	140786537	140786537	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:140786537C>T	uc004fbq.2	-	1	119	c.26G>A	c.(25-27)GGG>GAG	p.G9E		NM_145665	NP_663698	Q8TAD1	SPNXE_HUMAN	SPANX family, member E	9						cytoplasm|nucleus					0	Acute lymphoblastic leukemia(192;7.65e-05)					CCTCTTCACCCCGCCGGCACT	0.393													47	27					0	0	0.003610	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995068	140995068	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:140995068G>A	uc004fbt.2	+	4	2164	c.1878G>A	c.(1876-1878)CAG>CAA	p.Q626Q	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	626							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					CTTCTCTCCAGAGCCCTGTGA	0.567										HNSCC(15;0.026)			69	42					0	0	0.003610	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995424	140995424	+	Missense_Mutation	SNP	G	A	A	rs150635296		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:140995424G>A	uc004fbt.2	+	4	2520	c.2234G>A	c.(2233-2235)AGT>AAT	p.S745N	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	745							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					AGTCCTGTGAGTATCTGCTCC	0.567										HNSCC(15;0.026)			56	31					0	0	0.003610	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995859	140995859	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:140995859C>T	uc004fbt.2	+	4	2955	c.2669C>T	c.(2668-2670)TCC>TTC	p.S890F	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	890							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					GAGAGTGATTCCTTGACAGAC	0.478										HNSCC(15;0.026)			79	57					0	0	0.003610	0	0
SPANXN4	441525	broad.mit.edu	37	X	142113816	142113817	+	Missense_Mutation	DNP	TC	GT	GT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:142113816_142113817TC>GT	uc004fbv.3	+	1	113_114	c.16_17TC>GT	c.(16-18)TCC>GTC	p.S6V		NM_001009613	NP_001009613	Q5MJ08	SPXN4_HUMAN	SPANX family, member N4	6										ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGCCAACTTCCAGCACCAAC	0.356													5	1					0	0	0.004672	0	0
IDS	3423	broad.mit.edu	37	X	148579655	148579655	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:148579655G>A	uc011mxe.1	-	5	889	c.691C>T	c.(691-693)CCC>TCC	p.P231S	IDS_uc011mxf.1_Missense_Mutation_p.P141S|IDS_uc011mxg.1_Missense_Mutation_p.P20S|IDS_uc010nsu.1_Intron|IDS_uc004fcw.3_Missense_Mutation_p.P20S|IDS_uc011mxh.1_Missense_Mutation_p.P231S|IDS_uc011mxi.1_RNA	NM_000202	NP_000193	P22304	IDS_HUMAN	iduronate-2-sulfatase isoform a precursor	231			P -> L (in MPS2; mild form).			lysosome	iduronate-2-sulfatase activity|metal ion binding				0	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TATCTGAAGGGGATGTGTGGC	0.507													22	80					0	0	0.003954	0	0
PASD1	139135	broad.mit.edu	37	X	150840119	150840119	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:150840119G>A	uc004fev.3	+	13	1637	c.1305G>A	c.(1303-1305)CAG>CAA	p.Q435Q		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	PAS domain containing 1	435						nucleus	signal transducer activity			ovary(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)					AGAAACAACAGAAACAACACG	0.483													45	37					0	0	0.002522	0	0
CNGA2	1260	broad.mit.edu	37	X	150912081	150912081	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:150912081G>A	uc004fey.1	+	7	1330	c.1106G>A	c.(1105-1107)GGA>GAA	p.G369E		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	369	Helical; Name=H5; (Potential).				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)					ACCATCGTGGGAAATGTGGGC	0.512													36	13					0	0	0.008740	0	0
GABRE	2564	broad.mit.edu	37	X	151131055	151131055	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:151131055C>T	uc004ffi.2	-	4	457	c.403G>A	c.(403-405)GAC>AAC	p.D135N	GABRE_uc011myd.1_RNA|GABRE_uc011mye.1_RNA|MIR452_hsa-mir-452|MI0001733_5'Flank	NM_004961	NP_004952	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor,	135	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)					TCAAAGGTGTCGTTGTAACAG	0.483													35	19					0	0	0.003271	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303507	151303507	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:151303507G>A	uc004ffk.2	-	5	994	c.586C>T	c.(586-588)CCC>TCC	p.P196S	MAGEA10_uc004ffl.2_Missense_Mutation_p.P196S	NM_001011543	NP_001011543	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	196	MAGE.										0	Acute lymphoblastic leukemia(192;6.56e-05)					TGGCCAGTGGGATCCACTTCC	0.493													20	18					0	0	0.002299	0	0
MAGEA12	4111	broad.mit.edu	37	X	151896310	151896310	+	RNA	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:151896310C>T	uc004fgb.2	-	4		c.457G>A						P43365	MAGAC_HUMAN	Homo sapiens melanoma antigen family A, 12, mRNA (cDNA clone MGC:4914 IMAGE:3450217), complete cds.											skin(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)					CTGGAACTTCCTTGACGGGTC	0.537													20	20					0	0	0.003330	0	0
MAGEA1	4100	broad.mit.edu	37	X	152482275	152482275	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:152482275C>T	uc004fhf.2	-	3	956	c.736G>A	c.(736-738)GAA>AAA	p.E246K		NM_004988	NP_004979	P43355	MAGA1_HUMAN	melanoma antigen family A, 1	246	MAGE.					cytoplasm|plasma membrane				central_nervous_system(7)|ovary(1)|lung(1)|breast(1)	10	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGGTACTTTTCCTGCACCAAA	0.572													30	20					0	0	0.008361	0	0
ATP6AP1	537	broad.mit.edu	37	X	153664093	153664093	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:153664093C>T	uc004flf.1	+	10	1330	c.1269C>T	c.(1267-1269)TCC>TCT	p.S423S	ATP6AP1_uc004flg.1_RNA|ATP6AP1_uc004flh.1_Silent_p.S383S|GDI1_uc011mzo.1_5'Flank|GDI1_uc004fli.3_5'Flank	NM_001183	NP_001174	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory	423	Helical; (Potential).				ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			ovary(3)|breast(1)	4	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCTTCTTCTCCCCCGGCATCT	0.567													83	36					0	0	0.003610	0	0
F8	2157	broad.mit.edu	37	X	154159078	154159078	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:154159078C>T	uc004fmt.2	-	14	3158	c.2987G>A	c.(2986-2988)AGA>AAA	p.R996K		NM_000132	NP_000123	P00451	FA8_HUMAN	coagulation factor VIII isoform a precursor	996	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TCCATGAGCTCTTTTCCCTTT	0.338													43	16					0	0	0.002522	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4925194	4925194	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrY:4925194A>C	uc004fqo.2	+	1	1064	c.330A>C	c.(328-330)GAA>GAC	p.E110D	PCDH11Y_uc010nwg.1_Missense_Mutation_p.E99D|PCDH11Y_uc004fql.1_Missense_Mutation_p.E99D|PCDH11Y_uc004fqm.1_Missense_Mutation_p.E99D|PCDH11Y_uc004fqn.1_Missense_Mutation_p.E110D	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked isoform c	110	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0						TTCGAATTGAAGAGGATACTG	0.453													9	33					0	0	0.006214	0	0
NLGN4Y	22829	broad.mit.edu	37	Y	16734175	16734175	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrY:16734175G>A	uc004ftg.2	+	2	428	c.176G>A	c.(175-177)AGA>AAA	p.R59K	NLGN4Y_uc004fte.2_Intron|NLGN4Y_uc011nas.1_Missense_Mutation_p.R59K|NLGN4Y_uc004ftf.2_5'UTR|NLGN4Y_uc004fth.2_Missense_Mutation_p.R59K|NLGN4Y_uc004fti.3_Missense_Mutation_p.R59K	NM_014893	NP_055708	Q8NFZ3	NLGNY_HUMAN	neuroligin 4, Y-linked isoform 1	59	Extracellular (Potential).				brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|integral to plasma membrane|synapse	neurexin binding|receptor activity				0						CAGGGCCTAAGAACACCATTA	0.502													5	17					0	0	0.001168	0	0
NLGN4Y	22829	broad.mit.edu	37	Y	16952312	16952312	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrY:16952312C>T	uc004ftg.2	+	6	1873	c.1621C>T	c.(1621-1623)CCT>TCT	p.P541S	NLGN4Y_uc004fte.2_Missense_Mutation_p.P373S|NLGN4Y_uc011nas.1_Missense_Mutation_p.P561S|NLGN4Y_uc004ftf.2_Missense_Mutation_p.P234S|NLGN4Y_uc004fth.2_Missense_Mutation_p.P541S	NM_014893	NP_055708	Q8NFZ3	NLGNY_HUMAN	neuroligin 4, Y-linked isoform 1	541	Extracellular (Potential).				brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|integral to plasma membrane|synapse	neurexin binding|receptor activity				0						CCAACCAGTTCCTCAGGATAC	0.388													10	19					0	0	0.008291	0	0
RBM15	64783	broad.mit.edu	37	1	110883707	110883707	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:110883707delT	uc001dzl.1	+	1	1763	c.1680delT	c.(1678-1680)CCTfs	p.P560fs	RBM15_uc001dzm.1_Frame_Shift_Del_p.P560fs|uc001dzj.2_5'Flank	NM_022768	NP_073605	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	560					interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		CACCAGACCCTTTGAGGGGTG	0.552			T	MKL1	acute megakaryocytic leukemia								7	42	---	---	---	---					
DDX20	11218	broad.mit.edu	37	1	112309105	112309105	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:112309105delT	uc001ebs.2	+	11	2416	c.2059delT	c.(2059-2061)TCTfs	p.S687fs	DDX20_uc010owf.1_Frame_Shift_Del_p.S449fs|DDX20_uc001ebt.2_Frame_Shift_Del_p.S295fs	NM_007204	NP_009135	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	687					assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding			lung(1)|kidney(1)	2		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGACTCTGAATCTACGCCTGT	0.428													26	57	---	---	---	---					
FRMD4A	55691	broad.mit.edu	37	10	13699134	13699142	+	In_Frame_Del	DEL	CGCCCCCCG	-	-			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:13699134_13699142delCGCCCCCCG	uc001ims.2	-	22	2799_2807	c.2447_2455delCGGGGGGCG	c.(2446-2457)GCGGGGGGCGGT>GGT	p.AGG816del	FRMD4A_uc009xjf.1_In_Frame_Del_p.AGG816del	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	816_818						cytoplasm|cytoskeleton	binding			ovary(1)|skin(1)|pancreas(1)	3						AGGTACACAccgccccccgcgccccccgc	0.550													5	7	---	---	---	---					
TAF6L	10629	broad.mit.edu	37	11	62550287	62550298	+	Splice_Site	DEL	TTGGCTGGAAGG	-	-			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:62550287_62550298delTTGGCTGGAAGG	uc001nvc.2	+	9	1061	c.960_splice	c.e9+1	p.K320_splice		NM_006473	NP_006464	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II						chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	histone deacetylase complex|STAGA complex	DNA binding|protein binding|transcription coactivator activity			ovary(3)	3						CTGCATGCTCTTGGCTGGAAGGTGAGCACCCT	0.533													7	50	---	---	---	---					
DPP3	10072	broad.mit.edu	37	11	66260612	66260612	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:66260612delC	uc001oig.1	+	11	1320	c.1258delC	c.(1258-1260)CAGfs	p.Q420fs	DPP3_uc001oif.1_Frame_Shift_Del_p.Q420fs|DPP3_uc010rpe.1_Frame_Shift_Del_p.Q409fs	NM_005700	NP_005691	Q9NY33	DPP3_HUMAN	dipeptidyl peptidase III	420					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			ovary(1)|skin(1)	2						CTACGCCACGCAGCGGGAGAA	0.587													9	31	---	---	---	---					
DDX12	440081	broad.mit.edu	37	12	9572788	9572789	+	Splice_Site	INS	-	GCACCTGGAT	GCACCTGGAT	rs145731114		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:9572788_9572789insGCACCTGGAT	uc010sgs.1	-	22	2460	c.2265_splice	c.e22+1	p.C755_splice	DDX12_uc001qvx.3_5'UTR|DDX12_uc001qvy.1_5'Flank	NM_004400	NP_004391			DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12												0						GCATGACGCCCGCACCTGGAAT	0.550													3	5	---	---	---	---					
TDRD3	81550	broad.mit.edu	37	13	61084023	61084040	+	In_Frame_Del	DEL	CAGAAACCTGTTATGGGT	-	-	rs145444654		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:61084023_61084040delCAGAAACCTGTTATGGGT	uc001via.2	+	9	1494_1511	c.706_723delCAGAAACCTGTTATGGGT	c.(706-723)CAGAAACCTGTTATGGGTdel	p.QKPVMG236del	TDRD3_uc010aef.2_In_Frame_Del_p.QKPVMG61del|TDRD3_uc001vhz.3_In_Frame_Del_p.QKPVMG236del|TDRD3_uc010aeg.2_In_Frame_Del_p.QKPVMG329del|TDRD3_uc001vib.3_In_Frame_Del_p.QKPVMG235del	NM_030794	NP_110421	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3 isoform 2	236_241					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			upper_aerodigestive_tract(1)|skin(1)	2		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		AAGCAATAAACAGAAACCTGTTATGGGTCCTCCTCTGA	0.394													10	83	---	---	---	---					
TMEM121	80757	broad.mit.edu	37	14	105996050	105996052	+	In_Frame_Del	DEL	GCC	-	-	rs10569304		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:105996050_105996052delGCC	uc001yrp.1	+	2	1030_1032	c.879_881delGCC	c.(877-882)GTGCCG>GTG	p.P299del	ADAM6_uc010tyt.1_Intron|uc001yrr.2_5'Flank	NM_025268	NP_079544	Q9BTD3	TM121_HUMAN	hole protein	299	Pro-rich.					integral to membrane					0		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.0959)|all cancers(159;0.235)		GCAACTCGGTgccgccgccgccg	0.660													2	4	---	---	---	---					
NLRC3	197358	broad.mit.edu	37	16	3613464	3613464	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:3613464delG	uc010btn.2	-	5	1885	c.1474delC	c.(1474-1476)CTCfs	p.L492fs		NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	NOD3 protein	492					I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						AAATGCGTGAGGAAGCCCAGC	0.637													4	2	---	---	---	---					
MYBBP1A	10514	broad.mit.edu	37	17	4446299	4446299	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:4446299delA	uc002fyb.3	-	20	2863	c.2801delT	c.(2800-2802)TTGfs	p.L934fs	MYBBP1A_uc002fxz.3_Frame_Shift_Del_p.L934fs|MYBBP1A_uc002fya.3_5'Flank|MYBBP1A_uc010vsa.1_5'UTR	NM_014520	NP_055335	Q9BQG0	MBB1A_HUMAN	MYB binding protein 1a isoform 2	934					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						GTTGCCCTTCAAGACCCGGAG	0.662													18	103	---	---	---	---					
ZNF221	7638	broad.mit.edu	37	19	44471164	44471171	+	Frame_Shift_Del	DEL	AAACCTTT	-	-			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:44471164_44471171delAAACCTTT	uc002oxx.2	+	6	1838_1845	c.1510_1517delAAACCTTT	c.(1510-1518)AAACCTTTCfs	p.K504fs	ZNF221_uc010ejb.1_Frame_Shift_Del_p.K504fs|ZNF221_uc010xws.1_Frame_Shift_Del_p.K504fs	NM_013359	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	504_506	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1		Prostate(69;0.0352)				CAGTGGGGAAAAACCTTTCAAATGTGAA	0.447													15	49	---	---	---	---					
DPP10	57628	broad.mit.edu	37	2	116510770	116510770	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:116510770delT	uc002tla.1	+	11	1428	c.971delT	c.(970-972)GTTfs	p.V324fs	DPP10_uc002tlb.1_Frame_Shift_Del_p.V274fs|DPP10_uc002tlc.1_Frame_Shift_Del_p.V320fs|DPP10_uc002tle.2_Frame_Shift_Del_p.V328fs|DPP10_uc002tlf.1_Frame_Shift_Del_p.V317fs	NM_020868	NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl peptidase 10 isoform long	324	Extracellular (Potential).				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						ATCACTATGGTTAAATGGGTA	0.368													9	37	---	---	---	---					
TTC21B	79809	broad.mit.edu	37	2	166737216	166737216	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:166737216delA	uc002udk.2	-	27	3911	c.3778delT	c.(3778-3780)TATfs	p.Y1260fs	TTC21B_uc002udj.1_RNA	NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	1260	TPR 18.					cilium axoneme|cytoplasm|cytoskeleton	binding			ovary(2)|pancreas(2)|breast(1)	5						CGATTGCTATATTTCCATGCC	0.343													8	42	---	---	---	---					
PES1	23481	broad.mit.edu	37	22	30973084	30973084	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:30973084delG	uc003aij.1	-	15	1790	c.1716delC	c.(1714-1716)CACfs	p.H572fs	PES1_uc003aik.1_Frame_Shift_Del_p.H567fs|PES1_uc003ail.1_Frame_Shift_Del_p.H555fs|PES1_uc003aim.1_Frame_Shift_Del_p.H571fs|PES1_uc003ain.1_Frame_Shift_Del_p.H433fs|PES1_uc003aio.1_Frame_Shift_Del_p.H433fs	NM_014303	NP_055118	O00541	PESC_HUMAN	pescadillo homolog 1, containing BRCT domain	572	Required for 28S ribosomal RNA processing.				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						CCGCCTCATCGTGGGCTTTCC	0.632													15	78	---	---	---	---					
GRK4	2868	broad.mit.edu	37	4	3015470	3015470	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:3015470delA	uc003ggn.1	+	8	1111	c.656delA	c.(655-657)CAAfs	p.Q219fs	GRK4_uc003ggo.1_Frame_Shift_Del_p.Q219fs|GRK4_uc003ggp.1_Frame_Shift_Del_p.Q187fs|GRK4_uc003ggq.1_Frame_Shift_Del_p.Q187fs	NM_182982	NP_892027	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4 isoform	219	Protein kinase.					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AAAAAGCTACAAAAAAAAAGA	0.393													7	181	---	---	---	---					
CDKN2A	1029	broad.mit.edu	37	9	21971173	21971186	+	Frame_Shift_Del	DEL	AGCTCCGCCACTCG	-	-	rs121913382		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:21971173_21971186delAGCTCCGCCACTCG	uc003zpk.2	-	2	384_397	c.172_185delCGAGTGGCGGAGCT	c.(172-186)CGAGTGGCGGAGCTGfs	p.R58fs	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Frame_Shift_Del_p.P113fs	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	58_62	ANK 2.		L -> P (in CMM2).|EL -> DV.		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	p.0?(1112)|p.R58*(68)|p.?(14)|p.E61*(10)|p.M53_R58del(3)|p.E61fs*80(2)|p.L62del(2)|p.V59fs*61(2)|p.V59fs*82(2)|p.R58fs*59(2)|p.M54fs*61(2)|p.E61fs*49(2)|p.A60V(2)|p.V59fs*63(1)|p.V59fs*60(1)|p.V59fs*45(1)|p.R58fs*62(1)|p.A60fs*86(1)|p.E61fs*50(1)|p.L62fs*86(1)|p.E61fs*54(1)|p.E61fs*55(1)|p.E61_L94del(1)|p.E61fs*59(1)|p.A57_R58>V*(1)|p.G116fs*>53(1)|p.P113L(1)|p.R58fs*89(1)|p.R58R(1)|p.R58Q(1)|p.G55fs*86(1)|p.A57fs*85(1)|p.A60A(1)|p.V28_V51del(1)|p.A60E(1)|p.R58fs*61(1)|p.E61G(1)|p.V59M(1)|p.V59_G67del(1)|p.V59G(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GAGCAGCAGCAGCTCCGCCACTCGGGCGCTGCCC	0.678	E61*(A375_SKIN)	17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			18	32	---	---	---	---					
SMC5	23137	broad.mit.edu	37	9	72892225	72892225	+	Splice_Site	DEL	G	-	-			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:72892225delG	uc004ahr.2	+	4	498	c.381_splice	c.e4-1	p.L127_splice		NM_015110	NP_055925	Q8IY18	SMC5_HUMAN	SMC5 protein						DNA recombination|DNA repair	chromosome|nucleus	ATP binding			ovary(2)|central_nervous_system(1)	3						tttttaattaGGTTCAGGGCT	0.284													19	13	---	---	---	---					
SETX	23064	broad.mit.edu	37	9	135203954	135203958	+	Frame_Shift_Del	DEL	CACGG	-	-			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:135203954_135203958delCACGG	uc004cbk.2	-	10	3210_3214	c.3027_3031delCCGTG	c.(3025-3033)TCCCGTGGAfs	p.S1009fs	SETX_uc004cbj.2_Frame_Shift_Del_p.S628fs|SETX_uc010mzt.2_Frame_Shift_Del_p.S628fs	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	senataxin	1009_1011					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			ovary(2)|skin(1)	3		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ATAACCTGTCCACGGGAGGTATCTC	0.390													17	83	---	---	---	---					
